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Article

An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

American journal of medical genetics. Part A - 1 Jun 2023

Yüksel Ülker Aylin, Uludağ Alkaya Dilek, Çağlayan Ahmet Okay, Usluer Esra, Aykut Ayça, Aslanger Ayça, Vural Mehmet, Tüysüz Beyhan

Abstract excerpt

Overgrowth-intellectual disability (OGID) syndromes are clinically and genetically heterogeneous group of disorders. The aim of this study was to examine the molecular etiology and long-term follow-up findings of Turkish OGID cohort. Thirty-five children with OGID were included in the study. Single gene sequencing, clinical exome analysis, chromosomal microarray analysis and whole exome sequencing were performed....

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PMID: 36919607
DOI: 10.1002/ajmg.a.63180

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