First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review

Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected,...

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Detalles Bibliográficos
Autores principales: Song, Ari, Im, Minji, Kim, Min-Sun, Noh, Eu Seon, Kim, Chiwoo, Jang, Jahyun, Lee, Sae-Mi, Ki, Chang-Seok, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073030/
https://www.ncbi.nlm.nih.gov/pubmed/35038833
http://dx.doi.org/10.6065/apem.2142134.067

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073030/
https://www.ncbi.nlm.nih.gov/pubmed/35038833
http://dx.doi.org/10.6065/apem.2142134.067

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