Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III-Reference-Cited by-同舟云学术

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III

Published:2015-07 Issue: Volume:447 Page:47-51
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Mei Libin,Huang Yanru,Pan Qian,Su Wei,Quan Yi,Liang Desheng,Wu Lingqian

Funder

National Key Basic Research Program of China

National Key Technology R&D Program of China

Scientific Research in Health Public Welfare Industry

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference25 articles.

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5. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis;Mill;Am J Hum Genet,2011

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3. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome;European Journal of Human Genetics;2023-01-04

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