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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Detalles Bibliográficos
Autores principales: Li, Chuan, Chen, Rongyu, Fan, Xin, Luo, Jingsi, Qian, Jiale, Wang, Jin, Xie, Bobo, Shen, Yiping, Chen, Shaoke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432946/
https://www.ncbi.nlm.nih.gov/pubmed/25928000
http://dx.doi.org/10.1186/s12881-015-0165-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432946/
https://www.ncbi.nlm.nih.gov/pubmed/25928000
http://dx.doi.org/10.1186/s12881-015-0165-2

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