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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	Greig cephalopolysyndactyly Greig cephalopolysyndactyly contiguous gene syndrome array-CGH structural chromosomal anomalies deletion 7p Genetics QH426-470
Acceso en línea:	https://doaj.org/article/e2105db323714f18b0e4e126b9077f27
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Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review

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