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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Detalles Bibliográficos
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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https://doaj.org/article/e2105db323714f18b0e4e126b9077f27

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