Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1-Reference-Cited by-同舟云学术

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

Author:

Li Bing¹,Krakow Deborah²³⁴,Nickerson Deborah A.⁵,Bamshad Michael J.⁵⁶,Chang Yong⁷,Lachman Ralph S.⁴,Yilmaz Alev⁸,Kayserili Hülya⁹,Cohn Daniel H.¹²⁴,

Affiliation:

1. Department of Molecular, Cell and Developmental Biology; University of California Los Angeles; Los Angeles California

2. Department of Orthopaedic Surgery; University of California Los Angeles; Los Angeles California

3. Department of Human Genetics; University of California Los Angeles; Los Angeles California

4. International Skeletal Dysplasia Registry; University of California Los Angeles; Los Angeles California

5. Department of Genome Sciences; University of Washington; Seattle Washington

6. Department of Pediatrics; University of Washington; Seattle Washington

7. Department of Biological Chemistry; David Geffen School of Medicine at UCLA; University of California Los Angeles; Los Angeles California

8. Istanbul Medical Faculty; Pediatrics Department; Pediatric Nephrology Division; Istanbul University; Istanbul Turkey

9. Istanbul Medical Faculty; Medical Genetics Department; Istanbul University; Istanbul Turkey

Funder

National Institutes of Health

Orthopaedic Institute for Children, Orthopaedic Hospital Research Center, UCLA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference19 articles.

4. Opsismodisplazi ve tubülopati birlikteliği: Bir vaka takdimi;Bülbül;Çocuk Sağlığı ve Hastalıkları Dergisi,2005

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