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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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42 hot topic(s) found with the query "Short stature"

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.
Qing Li et al. JAMA Pediatr 2023 9 (Posted: Sep 12, 2023 7AM)

From the abstract: " What is the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in cases of short stature? In this study, review of pertinent literature resulted in 10 cohorts comprising 1350 individuals for ES and 14 cohorts including 1070 individuals for CMA in meta-analysis. The diagnostic yield for ES and CMA was determined to be 27.1% and 13.6%, respectively. In this meta-analysis, the findings indicate that ES and CMA may prove useful tools in identifying molecular etiologies underlying short stature in affected individuals."

Macrocephaly-short stature-paraplegia syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Narrow oral fissure short stature cone shaped epiphyses
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

X-linked intellectual disability - short stature – obesity
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Subaortic stenosis short stature syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Ankle defects short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Arthritis short stature deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Blepharophimosis with ptosis, syndactyly, and short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cleft palate short stature vertebral anomalies
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Deafness, epiphyseal dysplasia, short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Extrasystoles short stature hyperpigmentation microcephaly
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature-craniofacial anomalies-genital hypoplasia syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Hyalinosis systemic short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature, cranial hyperostosis, hepatomegaly and diabetes
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Lumbar malsegmentation short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Mastocytosis cutaneous with short stature conductive hearing loss and microtia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Intellectual deficit - short stature - hypertelorism
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Mental retardation short stature microcephaly eye
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Microcephaly hypergonadotropic hypogonadism short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Microdontia hypodontia short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Progeroid short stature with pigmented nevi
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature syndrome, Brussels type
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature contractures hypotonia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature cranial hyperostosis hepatomegaly
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature deafness neutrophil dysfunction
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature dysmorphic face pelvic scapula dysplasia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature microcephaly seizures deafness
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature monodactylous ectrodactyly cleft palate
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature prognathism short femoral necks
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature Robin sequence cleft mandible hand anomalies clubfoot
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature talipes natal teeth
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature valvular heart disease
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature wormian bones dextrocardia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Symphalangism short stature accessory testis
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Synostosis of talus and calcaneus short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Thrombocytopenia cerebellar hypoplasia short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Thumb absent short stature immune deficiency
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Psychosocial short stature
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Cataracts, ataxia, short stature, and mental retardation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Short stature with optic atrophy and Pelger-Huët anomaly syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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