Cargando…

Barber‐say syndrome: a confirmed case of TWIST2 gene mutation

Barber‐Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along w...

Descripción completa

Detalles Bibliográficos
Autores principales: Yohannan, Mulakkan David, Hilgeman, Jennifer, Allsbrook, Katlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494409/
https://www.ncbi.nlm.nih.gov/pubmed/28680619
http://dx.doi.org/10.1002/ccr3.1014

Ejemplares similares