Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations-Reference-Cited by-同舟云学术

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

Published:2012-07-20 Issue:11 Volume:158A Page:2719-2725
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bober Michael B.,Niiler Tim,Duker Angela L.,Murray Jennie E.,Ketterer Tara,Harley Margaret E.,Alvi Sabah,Flora Christina,Rustad Cecilie,Bongers Ernie M.H.F.,Bicknell Louise S.,Wise Carol,Jackson Andrew P.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35447/fullpdf

Reference22 articles.

1. Mutations in the pre-replication complex cause Meier-Gorlin syndrome;Bicknell;Nat Genet,2011a

2. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome;Bicknell;Nat Genet,2011b

3. Majewski osteodysplastic primordial dwarfism type II (MOPD II): Expanding the vascular phenotype;Bober;Am J Med Genet Part A,2010

4. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies;Brancati;Am J Med Genet Part A,2005

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

Cited by 39 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size;Cells;2023-07-07

2. Clinical Findings and Dental Manifestations Associated With Microcephalic Osteodysplastic Primordial Dwarfism Type II: A Case Report;Journal of Pediatrics Review;2022-10-01

3. Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan;Disease Markers;2022-09-26

4. Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys;BMC Medical Genomics;2022-04-14

5. A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II);American Journal of Case Reports;2021-11-09