Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant-Reference-Cited by-同舟云学术

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

Published:2021-07-13 Issue:12 Volume:185 Page:3814-3820
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rumping Lynne¹^ORCID,Wessels Marja W.²,Postma Alex V.¹³,Schuppen Joost⁴,Slegtenhorst Marjon A.²,Saris Jasper J.²,Tintelen J. Peter¹⁵,Robertson Stephen P.⁶^ORCID,Alders Mariëlle¹,Maas Saskia M.¹,Deprez Ronald H. Lekanne¹

Affiliation:

1. Department of Clinical Genetics Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

2. Department of Clinical Genetics Erasmus Medical Centre Rotterdam The Netherlands

3. Department of Medical Biology Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

4. Department of Radiology and Nuclear Medicine Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

5. Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

6. Department of Women's and Children's Health University of Otago Dunedin New Zealand

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62417

Reference13 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R. C.;American Journal of Human Genetics,1992

2. Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders

3. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

4. Terminal osseous dysplasia with pigmentary defects (TODPD): Follow‐up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region;Brunetti‐Pierri N.;American Journal of Human Genetics,2010

5. A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization;Horii E.;American Journal of Human Genetics,1998