A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response

Background. 19p13.3 microduplication syndrome is a newly defined intrauterine onset growth retardation syndrome characterized by microcephaly, moderate intellectual disability, speech delay, and mild dysmorphic features. The PIAS4 gene located in this region plays a crucial role as a transcri...

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Principais autores:	Emre Özer, Birsen Karaman, Nilay Güneş, Olcay Evliyaoğlu, Beyhan Tüysüz
Formato:	Artigo
Idioma:	Inglês
Publicado:	Hacettepe University Institute of Child Health 2021-02-01
Series:	The Turkish Journal of Pediatrics
Assuntos:	19p13.3 microduplication PIAS4 growth hormone intrauterine growth retardation microcephaly
Acceso en liña:	https://turkjpediatr.org/article/view/285
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