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EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome
BACKGROUND: Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associ...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4432946/ https://ncbi.nlm.nih.gov/pubmed/25928000 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0165-2 |
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