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2002 | 1 |
2018 | 1 |
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.
Brain. 2020.
PMID: 31834374
Free PMC article.
We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging r …
We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial featu …
Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.
McKenna B, Koomar T, Vervier K, Kremsreiter J, Michaelson JJ.
McKenna B, et al.
Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003285. doi: 10.1101/mcs.a003285. Print 2018 Dec.
Cold Spring Harb Mol Case Stud. 2018.
PMID: 30559312
Free PMC article.
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No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.
de Vries BB, Tyson J, Winter RM, Malcolm S.
de Vries BB, et al.
Am J Med Genet. 2002 Apr 22;109(2):117-20. doi: 10.1002/ajmg.10318.
Am J Med Genet. 2002.
PMID: 11977159
Patients with monosomy 22q13.3 --> qter have, in addition to (usually severe) developmental delay, hypotonia, severe expressive language delay leading to absence of speech, pervasive developmental abnormalities, and subtle facial anomalies. ...
Patients with monosomy 22q13.3 --> qter have, in addition to (usually severe) developmental delay, hypotonia, severe expressive …
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