Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome-Reference-Cited by-同舟云学术

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

Published:2014-02-17 Issue:4 Volume:86 Page:318-325
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Lohan S.¹²,Spielmann M.¹²³,Doelken S.C.¹,Flöttmann R.¹,Muhammad F.⁴,Baig S.M.⁴,Wajid M.⁴,Hülsemann W.⁵,Habenicht R.⁵,Kjaer K.W.⁶,Patil S.J.⁷,Girisha K.M.⁸,Abarca-Barriga H.H.⁹¹⁰,Mundlos S.¹²³,Klopocki E.¹¹¹

Affiliation:

1. Institute for Medical Genetics and Human Genetics; Charité Universitätsmedizin Berlin; Berlin Germany

2. Max Planck Institute for Molecular Genetics; Research Group Mundlos; Berlin Germany

3. Berlin-Brandenburg School for Regenerative Therapies (BSRT); Berlin Germany

4. Human Molecular Genetics Laboratory; National Institute for Biotechnology and Genetic Engineering; Faisalabad Pakistan

5. Handchirurgie; Kinderkrankenhaus Wilhelmstift; Hamburg Germany

6. Wilhelm Johannsen Centre for Functional Genome Research; University of Copenhagen; Copenhagen Denmark

7. Centre for Molecular and Metabolic Diagnostics and Research; Narayana Hrudayalaya Hospitals; Bangalore India

8. Division of Medical Genetics, Department of Pediatrics; Kasturba Medical College, Manipal University; Manipal India

9. Genetic; Instituto Nacional de Salud del Niño; Lima Peru

10. Centro de Investigación de Genética Humana Wiñay; Genética; Lima Peru

11. Institute for Human Genetics, Biozentrum; Universität Würzburg; Würzburg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Human limb abnormalities caused by disruption of hedgehog signaling;Anderson;Trends Genet,2012

2. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly;Lettice;Hum Mol Genet,2003

3. Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly;Lettice;Dev Cell,2012

4. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome;Klopocki;J Med Genet,2008

5. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb;Wieczorek;Hum Mutat,2010

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