Mutations in DYNC2H1 , the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type

Author:

Badiner N.1,Taylor S.P.2,Forlenza K.3,Lachman R. S.4,Bamshad M.5678,Nickerson D.56,Cohn D. H.349,Krakow D.23410,

Affiliation:

1. David Geffen School of Medicine at UCLA; Los Angeles CA USA

2. Department of Human Genetics; Los Angeles CA USA

3. Department of Orthopaedic Surgery; Los Angeles CA USA

4. International Skeletal Dysplasia Registry at UCLA; Los Angeles CA USA

5. University of Washington Center for Mendelian Genomics; Seattle WA USA

6. Department of Genome Sciences; Seattle WA USA

7. Department of Pediatrics; University of Washington; Seattle WA USA

8. Division of Genetic Medicine; Seattle Children's Hospital; Seattle WA USA

9. Department of Developmental Cell and Molecular Biology; University of California at Los Angeles; Los Angeles CA USA

10. Department of Obstetrics and Gynecology; David Geffen School of Medicine at UCLA; Los Angeles CA USA

Funder

National Institutes of Health

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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