Article

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

2022-07-12

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease, with about 90 cases reported to date. It is associated to mutations (heterozygous for female subjects, and hemizygous for males) of the <italic>AMER1 </italic>gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical...

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Literature Corpus work: 3e5a3518-1dc9-570b-af8b-58e6ff0dbce1
DOI: 10.21203/rs.3.rs-1787912/v1

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