Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

被引：0

作者：

Gregorio Serra

Vincenzo Antona

Maria Rita Di Pace

Mario Giuffrè

Giusy Morgante

Ettore Piro

Roberto Pirrello

Sergio Salerno

Ingrid Anne Mandy Schierz

Vincenzo Verde

Giovanni Corsello

机构：

[1] University of Palermo,Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”

来源：

Italian Journal of Pediatrics | / 48卷

关键词：

OS-CS; Skeletal dysplasia; X-inactivation; Next generation sequencing; Case report;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

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