Cargando...

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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Ann Pediatr Endocrinol Metab
Main Authors: Yang, Aram, Kim, Jinsup, Cho, Sung Yoon, Lee, Ji-Eun, Kim, Hee-Jin, Jin, Dong-Kyu
Formato: Artigo
Idioma:Inglês
Publicado: Korean Society of Pediatric Endocrinology 2019
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6449612/
https://ncbi.nlm.nih.gov/pubmed/30943682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2019.24.1.60
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!