A carregar...
22q11.2q13 Duplication Including SOX10 causes Sex-reversal and Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome and Hirschsprung Disease
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., 2004; Ajmga 127: 149–151], of an individual with 22q duplication and sex-reversal syndrome. The subject’s phenotype evolve...
Na minha lista:
| Publicado no: | Am J Med Genet A |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5536953/ https://ncbi.nlm.nih.gov/pubmed/28328136 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38109 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|