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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177705/
https://www.ncbi.nlm.nih.gov/pubmed/28018439
http://dx.doi.org/10.3345/kjp.2016.59.11.S25

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177705/
https://www.ncbi.nlm.nih.gov/pubmed/28018439
http://dx.doi.org/10.3345/kjp.2016.59.11.S25

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