Brachydactyly Type A1
Last Posted: Mar 10, 2023
- IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
Vasques Gabriela A, et al. The Journal of clinical endocrinology and metabolism 2017 0 (2) 604-614
- [Clinical practice guidelines for brachydactyly type A1].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 313-317
- Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho Lemuel, et al. European journal of human genetics : EJHG 2015 3
- Brachydactyly type A1
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 08, 2023
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