Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.

scientific article published on 2 June 2016

Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/CGA.12173
P698PubMed publication ID27254532

P2093author name stringJian Wang
Bo Wang
Zhigang Wang
Juan Geng
Qihua Fu
Niu Li
Yunlan Xu
P2860cites workSynpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractQ24314157
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated familiesQ24539303
Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese familiesQ28117048
Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13Q28301948
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequencesQ33309749
Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisQ33787472
Clinical whole-exome sequencing for the diagnosis of mendelian disordersQ34413680
Synpolydactyly: clinical and molecular advancesQ34733401
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetranceQ34975300
A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese familyQ43805551
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese familyQ47772607
The usefulness of whole-exome sequencing in routine clinical practice.Q50657606
A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansionsQ55670724
P433issue1
P304page(s)4-7
P577publication date2016-06-02
P1433published inCongenital anomaliesQ26840002
P1476titleExome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
P478volume57

Reverse relations

cites work (P2860)
Q92212426A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family
Q53118132Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation.

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