 |
Journal articles
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome
Abstract : A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synophrys, midface hypoplasia, downturned mouth corners, thin upper vermillion border and prominent ears, bilateral 5th finger camptodactyly, bilateral short 4th metatarsal bones, and limited knee mobility bilaterally.
Cited literature [28 references]
https://hal-univ-evry.archives-ouvertes.fr/hal-02292662
Contributor : Olek Maciejak <>
Submitted on : Friday, October 18, 2019 - 10:38:52 AM
Last modification on : Friday, July 23, 2021 - 11:27:59 AM
Long-term archiving on: : Sunday, January 19, 2020 - 1:34:49 PM
Contributor : Olek Maciejak <>
Submitted on : Friday, October 18, 2019 - 10:38:52 AM
Last modification on : Friday, July 23, 2021 - 11:27:59 AM
Long-term archiving on: : Sunday, January 19, 2020 - 1:34:49 PM
File
document.pdf
Publication funded by an institution
