A novel mutation inRNU4ATACin a patient with microcephalic osteodysplastic primordial dwarfism type I-Reference-Cited by-同舟云学术

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A novel mutation inRNU4ATACin a patient with microcephalic osteodysplastic primordial dwarfism type I

Published:2015-03-03 Issue:4 Volume:167 Page:919-921
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kilic Esra¹,Yigit Gökhan²³⁴,Utine Gülen Eda¹,Wollnik Bernd²³⁴,Mihci Ercan⁵,Nur Banu Güzel⁵,Boduroglu Koray¹

Affiliation:

1. Faculty of Medicine; Division of Pediatric Genetics; Hacettepe University; Ankara Turkey

2. Institute of Human Genetics; University of Cologne; Cologne Germany

3. Center for Molecular Medicine Cologne (CMMC); University of Cologne; Cologne Germany

4. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD); University of Cologne; Cologne Germany

5. Faculty of Medicine; Division of Pediatric Genetics; Akdeniz University; Antalya Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36955/fullpdf

Reference13 articles.

1. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder;Abdel-Salam;Am J Med Genet,2011

2. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I;Abdel-Salam;Am J Med Genet,2013

3. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA;Edery;Science,2011

4. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I;He;Science,2011

5. Studies of microcephalic primordial dwarfism III: An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles-osteodysplastic primordial dwarfism type III;Majewski;Am J Med Genet,1982

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1. Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract;Clinical Genetics;2024-06-05

2. Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III;Journal of Clinical Immunology;2023-02-18

3. A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy;American Journal of Medical Genetics Part A;2022-07-06

4. Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene;PLOS ONE;2020-07-06

5. Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency;American Journal of Medical Genetics Part A;2020-05-28

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