Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are respon...

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Detalhes bibliográficos
Publicado no:Korean J Pediatr
Main Authors: Kim, Yoon-Myung, Choi, In-Hee, Kim, Jun Suk, Kim, Ja Hye, Cho, Ja Hyang, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Seo, Eul-Ju, Yoo, Han-Wook
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177705/
https://ncbi.nlm.nih.gov/pubmed/28018439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S25
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