Terminal osseous dysplasia with pigmentary defects ( TODPD ) due to a recurrent filamin A ( FLNA ) mutation-Reference-Cited by-同舟云学术

Terminal osseous dysplasia with pigmentary defects ( TODPD ) due to a recurrent filamin A ( FLNA ) mutation

Published:2014-08-08 Issue:6 Volume:2 Page:467-471
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Brunetti‐Pierri Nicola¹²,Torrado Maria³,Fernandez Maria del Carmen⁴,Tello Ana Maria⁴,Arberas Claudia L.⁴,Cardinale Antonella¹,Piccolo Pasquale¹,Bacino Carlos A.⁵

Affiliation:

1. Telethon Institute of Genetics and Medicine Naples Italy

2. Department of Translational Medicine Federico II University of Naples Naples Italy

3. Servicio de Genética Hospital Garraham Buenos Aires Argentina

4. Hospital de Niños Dr. Ricardo Gutiérrez Buenos Aires Argentina

5. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.90

Reference11 articles.

1. A meckelin–filamin A interaction mediates ciliogenesis

2. Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome

3. 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

4. Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders†

5. Actin-binding protein promotes the bipolar and perpendicular branching of actin filaments.

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1. Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review;The Journal of Dermatology;2020-01-09

2. Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings;American Journal of Medical Genetics Part A;2018-12-18

3. Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation inFLNA;American Journal of Medical Genetics Part A;2016-10-14

4. Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects;American Journal of Medical Genetics Part A;2015-06-08