A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3-Reference-Cited by-同舟云学术

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A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3

Published:2014-05-16 Issue:9 Volume:164 Page:2338-2343
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Al Kaissi Ali¹²³,Ganger Rudolf³,Rötzer Katharina M.⁴,Klaushofer Klaus¹²,Grill Franz³

Affiliation:

1. Ludwig Boltzmann Institute of Osteology; Hanusch Hospital of WGKK; Vienna Austria

2. AUVA Trauma Centre Meidling, First Medical Department; Hanusch Hospital; Vienna Austria

3. Paediatric Department; Orthopaedic Hospital of Speising; Vienna Austria

4. Institute of Human Genetics; Medical University of Graz; Graz Austria

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36614/fullpdf

Reference21 articles.

1. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome;Albers;Nat Genet,2012

2. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD);Armour;Eur J Hum Genet,2011

3. A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosomal translocation;Babbs;Hum Genet,2007

4. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes;Bruno;J Med Genet,2010

5. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24;de Mollerat;Hum Mol Genet,2003

Cited by 8 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. A Case of Fibular Aplasia-Tibial Campomelia-Oligosyndactyly (FATCO) Syndrome Associated With Split Hand/Foot Syndrome With Long Bone Deficiency (SHFLD) and Review of the Literature;Cureus;2024-07-22

2. Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε);Brain Sciences;2021-12-30

3. Hemimelia tibial izquierda con pie equino varo aducto bilateral y ausencia del tercer rayo de la mano izquierda. Reporte de Caso;Revista Colombiana de Ortopedia y Traumatología;2020-04

4. Reconstruction of a Monodactylous Hand with Microsurgical Free Foot-to-Hand Transfer in Split-Hand/Split-Foot Malformation with Tibial Aplasia;Plastic and Reconstructive Surgery - Global Open;2020-02

5. 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

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