Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review

Snijders Blok–Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual...

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Bibliographic Details
Main Authors: Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
<i>CHD3</i>
Snijders Blok–Campeau syndrome
overgrowth
neurodevelopmental disorders
SNIBCPS
Online Access:https://www.mdpi.com/2073-4425/14/9/1664

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https://www.mdpi.com/2073-4425/14/9/1664

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