46, Xy Disorders Of Sexual Development
What's New
Last Posted: May 25, 2024
- Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.
Rajan Palui, et al. Indian journal of pediatrics 2024 0 - Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Akcan Ne?e, et al. Journal of clinical research in pediatric endocrinology 2022 0 (2) 153-171 - Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
Röpke Albrecht, et al. European journal of human genetics : EJHG 2013 9 (9) 1012-5 - 46, XY disorders of sexual development
From NCATS Genetic and Rare Diseases Information Center - Mutations of CXorf6 are associated with a range of severities of hypospadias.
Kalfa Nicolas, et al. European journal of endocrinology / European Federation of Endocrine Societies 2008 10 (4) 453-8
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
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- Page last reviewed:Feb 1, 2024
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