DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome-Reference-Cited by-同舟云学术

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Published:2016-03 Issue:3 Volume:98 Page:553-561
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

White Janson J.,Mazzeu Juliana F.,Hoischen Alexander,Bayram Yavuz,Withers Marjorie,Gezdirici Alper,Kimonis Virginia,Steehouwer Marloes,Jhangiani Shalini N.,Muzny Donna M.,Gibbs Richard A.,van Bon Bregje W.M.,Sutton V. Reid,Lupski James R.,Brunner Han G.,Carvalho Claudia M.B.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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3. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2;Afzal;Nat. Genet.,2000

4. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome;van Bokhoven;Nat. Genet.,2000

5. A newly recognized dwarfing syndrome;Robinow;Am. J. Dis. Child.,1969

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