Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families-Reference-Cited by-同舟云学术

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Published:2014-07-29 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Tayebi Naeimeh,Jamsheer Aleksander,Flöttmann Ricarda,Sowinska-Seidler Anna,Doelken Sandra C,Oehl-Jaschkowitz Barbara,Hülsemann Wiebke,Habenicht Rolf,Klopocki Eva,Mundlos Stefan,Spielmann Malte

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1186/s13023-014-0108-6.pdf

Reference39 articles.

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2. Basel D, Kilpatrick MW, Tsipouras P: The expanding panorama of split hand foot malformation. Am J Med Genet A. 2006, 140: 1359-1365. 10.1002/ajmg.a.31304.

3. Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S, Zhou L, Becker D, Kere J, Ignatius J, Nllkawa J, Fukushlma Y, Hasegawa T, Weissenbach J, Boncinelli E, Trask B, Tsui L, Evans JP: Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum Mol Genet. 1994, 3: 1345-1354. 10.1093/hmg/3.8.1345.

4. Freire-Maia A: A recessive form of ectrodactyly, and its implications in genetic counseling. J Hered. 1971, 62: 53-

5. Verma IC, Joseph R, Bhargava S, Mehta S: Split-hand and split-foot deformity inherited as an autosomal recessive trait. Clin Genet. 1976, 9: 8-14. 10.1111/j.1399-0004.1976.tb01543.x.

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