Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the <i>GLI3</i> gene (...

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Main Authors: Kinga Kozma, Marius Bembea, Claudia M. Jurca, Mihai Ioana, Ioana Streață, Simona Ş. Şoşoi, Andrei Pirvu, Codruța D. Petchesi, Ariana Szilágyi, Cristian N. Sava, Alexandru Jurca, Anikó Ujfalusi, Zsuzsanna Szűcs, Katalin Szakszon
Format: article
Language:EN
Published: MDPI AG 2021
Subjects:
Greig cephalopolysyndactyly
Greig cephalopolysyndactyly contiguous gene syndrome
array-CGH
structural chromosomal anomalies
deletion 7p
Genetics
QH426-470
Online Access:https://doaj.org/article/e2105db323714f18b0e4e126b9077f27
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https://doaj.org/article/e2105db323714f18b0e4e126b9077f27

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