A case of de novo 18p deletion syndrome with panhypopituitarism

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from min...

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Detalles Bibliográficos
Autores principales: Yang, Aram, Kim, Jinsup, Cho, Sung Yoon, Lee, Ji-Eun, Kim, Hee-Jin, Jin, Dong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449612/
https://www.ncbi.nlm.nih.gov/pubmed/30943682
http://dx.doi.org/10.6065/apem.2019.24.1.60

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449612/
https://www.ncbi.nlm.nih.gov/pubmed/30943682
http://dx.doi.org/10.6065/apem.2019.24.1.60

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