De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias-Reference-Cited by-同舟云学术

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Published:2023-10 Issue:10 Volume:25 Page:100927
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Harms Frederike L.,Dingemans Alexander J.M.,Hempel Maja,Pfundt Rolph,Bierhals Tatjana,Casar Christian,Müller Christian,Niermeijer Jikke-Mien F.,Fischer Jan,Jahn Arne,Hübner Christoph,Majore Silvia,Agolini Emanuele,Novelli Antonio,van der Smagt Jasper,Ernst Robert,van Binsbergen Ellen,Mancini Grazia M.S.,van Slegtenhorst Marjon,Barakat Tahsin Stefan,Wakeling Emma L.,Kamath Arveen,Downie Lilian,Pais Lynn,White Susan M.,de Vries Bert B.A.,Kutsche Kerstin^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

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1. The Human Phenotype Ontology in 2024: phenotypes around the world;Nucleic Acids Research;2023-11-11

2. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias;Genetics in Medicine;2023-11