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A Newborn with Panhypopituitarism and Seizures

Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituit...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Kale, Trupti, Patil, Rachit, Pandit, Ramesh
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5309428/
https://ncbi.nlm.nih.gov/pubmed/28255477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/4364216
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