Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature-Reference-Cited by-同舟云学术

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

Published:2021-10-14 Issue:1 Volume:30 Page:95-100
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Murch Oliver^ORCID,Jain Vani^ORCID,Benneche Andreas,Metcalfe Kay,Hobson Emma,Prescott Katrina,Chandler Kate,Ghali Neeti^ORCID,Carmichael Jenny,Foulds Nicola C.,Paulsen Julie,Smeland Marie F.,Berland Siren^ORCID,Fry Andrew E.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-021-00961-3.pdf

Reference30 articles.

1. Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, et al. Disruption of POGZ is associated with intellectual disability and autism spectrum disorders. Am J Hum Genet. 2016;98:541–52.

2. White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016;8:3.

3. Dentici ML, Niceta M, Pantaleoni F, Barresi S, Bencivenga P, Dallapiccola B, et al. Expanding the phenotypic spectrum of truncating POGZ mutations: association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet A 2017;173:1965–9.

4. Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BWM, Willemsen MH, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 2014;511:344–7.

5. Lelieveld SH, Reijnders MRF, Pfundt R, Yntema HG, Kamsteeg E-J, de Vries P, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat Neurosci. 2016;19:1194–6.

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