The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome-Reference-Cited by-同舟云学术

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Published:2017-12-19 Issue:2 Volume:176 Page:465-469
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Farach Laura S.¹^ORCID,Little Mary E.²,Duker Angela L.²,Logan Clare V.³,Jackson Andrew³,Hecht Jaqueline T.⁴,Bober Michael²

Affiliation:

1. Department of Pediatrics, Division of Medical Genetics, McGovern Medical SchoolUniversity of Texas Health Science CenterHouston at HoustonTexas

2. Division of Medical GeneticsNemours/Alfred I. duPont Hospital for ChildrenWilmingtonDelaware

3. MRC Human Genetics UnitInstitute of Genetics and Molecular Medicine, University of EdinburghEdinburghUK

4. Department of Pediatrics, Pediatric Research Center, McGovern Medical School and School of DentistryUniversity of Texas Health Science Center at HoustonHoustonTexas

Funder

Medical Research Council

H2020 European Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38581

Reference23 articles.

1. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

2. A new patient with Lowry-Wood syndrome with mild phenotype

3. Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

4. Osteodysplastic primordial dwarfism: Report of a further case with manifestations similar to those of types I and III

5. Epiphyseal dysplasia with coxa vara, microcephaly, and normal intelligence in sibs: Expanded spectrum of Lowry-Wood syndrome?

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