Holoprosencephaly
What's New
Last Posted: Mar 08, 2023
- Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim Artem, et al. Brain : a journal of neurology 2018 0 (1) 35-49 - Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Babu Deepak, et al. Clinical endocrinology 2018 0 (3) 449-456 - Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.
Hu Ping, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 0 (4) 1015-1020 - Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Haag Natja, et al. European journal of human genetics : EJHG 2021 0 (11) 1663-1668 - [Analysis of a child with holoprosencephaly due to variant of SIX3 gene].
Zeng Hong, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 0 (7) 656-658 - Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.
Zhi Yunxiao, et al. Archives of gynecology and obstetrics 2022 0 - A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling.
Valenza Fabiola, et al. PloS one 2019 0 (1) e0210097 - Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Rosenfeld Jill A, et al. Human genetics 2010 0 (4) 421-40 - TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.
Keaton A A, et al. Molecular syndromology 2011 0 (5) 211-222 - De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.
Chen C P, et al. Genetic counseling (Geneva, Switzerland) 2005 0 (4) 437-42
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the 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 update, 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.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 19, 2024
- Content source: