Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

• Main Authors: Yoon-Myung Kim (Author), In-Hee Choi (Author), Jun Suk Kim (Author), Ja Hye Kim (Author), Ja Hyang Cho (Author), Beom Hee Lee (Author), Gu-Hwan Kim (Author), Jin-Ho Choi (Author), Eul-Ju Seo (Author), Han-Wook Yoo (Author)
• Format: Book
• Published: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...