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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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Bibliographische Detailangaben
Veröffentlicht in:Ann Pediatr Endocrinol Metab
Hauptverfasser: Yang, Aram, Kim, Jinsup, Cho, Sung Yoon, Lee, Ji-Eun, Kim, Hee-Jin, Jin, Dong-Kyu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Korean Society of Pediatric Endocrinology 2019
Schlagworte:
Online Zugang: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
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