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Article

A further family of Stromme syndrome carrying CENPF mutation.

American journal of medical genetics. Part A - 1 Jun 2017

Ozkinay Ferda, Atik Tahir, Isik Esra, Gormez Zeliha, Sagiroglu Mahmut, Sahin Ozlem Atan, Corduk Nergul, Onay Huseyin

Abstract excerpt

Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28407396
DOI: 10.1002/ajmg.a.38173

Genes

CENPF

Variants

Provenance

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