Last Posted: Aug 01, 2018
- CLINGEN Actionability Report for Adrenoleukodystrophy - ABCD1
ClinGen Actionability Working Group
- CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.
Barbier Mathieu, et al. PloS one 2012 0 (1) e29872
- Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
Matsukawa Takashi, et al. Neurogenetics 2011 2 (1) 41-50
- [Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].
Ping Li-li, et al. Zhonghua er ke za zhi. Chinese journal of pediatrics 2007 3 (3) 203-7
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
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- Fragile X Syndrome
- Gaucher Disease
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- Huntington Disease
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- Retinitis Pigmentosa
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