scholarly article | Q13442814 |
P356 | DOI | 10.1111/CGA.12173 |
P698 | PubMed publication ID | 27254532 |
P2093 | author name string | Jian Wang | |
Bo Wang | |||
Zhigang Wang | |||
Juan Geng | |||
Qihua Fu | |||
Niu Li | |||
Yunlan Xu | |||
P2860 | cites work | Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract | Q24314157 |
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families | Q24539303 | ||
Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families | Q28117048 | ||
Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13 | Q28301948 | ||
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences | Q33309749 | ||
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis | Q33787472 | ||
Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
Synpolydactyly: clinical and molecular advances | Q34733401 | ||
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance | Q34975300 | ||
A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family | Q43805551 | ||
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family | Q47772607 | ||
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 expansions | Q55670724 | ||
P433 | issue | 1 | |
P304 | page(s) | 4-7 | |
P577 | publication date | 2016-06-02 | |
P1433 | published in | Congenital anomalies | Q26840002 |
P1476 | title | Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly. | |
P478 | volume | 57 |
Search more.