Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome

Biallelic loss‐of‐function (LoF) variants in CENPF gene are responsible for Strømme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males and one female) carrying CENPF bial...

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Detalles Bibliográficos
Autores principales: Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti‐Pierri, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322429/
https://www.ncbi.nlm.nih.gov/pubmed/35488810
http://dx.doi.org/10.1002/ajmg.c.31973

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322429/
https://www.ncbi.nlm.nih.gov/pubmed/35488810
http://dx.doi.org/10.1002/ajmg.c.31973

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