Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis-Reference-Cited by-同舟云学术

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis

Published:2013-02 Issue:2 Volume:56 Page:88-92
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Petit Florence,Andrieux Joris,Demeer Bénédicte,Collet Louis-Michel,Copin Henri,Boudry-Labis Elise,Escande Fabienne,Manouvrier-Hanu Sylvie,Mathieu-Dramard Michèle

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

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2. Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation;Hoyme;The Journal of Pediatrics,1987

3. Bilateral split-hand with bilateral tibial aplasia;Sener;Pediatric Radiology,1989

4. Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance;Majewski;Human Genetics,1985

5. Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?;Majewski;American Journal of Medical Genetics,1996

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency;Taiwanese Journal of Obstetrics and Gynecology;2019-07

2. Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature;BMC Medical Genetics;2019-06-14

3. 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype;Orphanet Journal of Rare Diseases;2018-07-03

4. Copy-number variants and candidate gene mutations in isolated split hand/foot malformation;Journal of Human Genetics;2017-05-25

5. Bhlha9 regulates apical ectodermal ridge formation during limb development;Journal of Bone and Mineral Metabolism;2017-03-21