Case Report: Phenotype-Gene Correlation in a Case of Novel Tandem 4q Microduplication With Short Stature, Speech Delay and Microcephaly

We describe a sporadic case of a pure, tandem, interstitial chromosome 4q duplication, arr[hg19] 4q28.1q32.3 (127,008,069-165,250,477) x3 in a boy born at 36 weeks of gestation. He presented with microcephaly (head circumference <1(st) percentile), short stature (height <2(nd) percentile) and...

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Detalles Bibliográficos
Autores principales: Umlai, Umm-Kulthum Ismail, Haris, Basma, Hussain, Khalid, Jithesh, Puthen Veettil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851600/
https://www.ncbi.nlm.nih.gov/pubmed/35185781
http://dx.doi.org/10.3389/fendo.2021.783235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851600/
https://www.ncbi.nlm.nih.gov/pubmed/35185781
http://dx.doi.org/10.3389/fendo.2021.783235

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