Article
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2022
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
Abstract excerpt
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 biallelic variants, including two missense variants in homozygous state and four LoF variants, were identified by exome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.