First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive <i>cutis laxa</i> type 1C-Reference-Cited by-同舟云学术

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First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C

Published:2022-08-16 Issue:11 Volume:188 Page:3343-3349
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ravel Jean‐Marie¹²,Comel Margot¹,Wandzel Marion¹,Bronner Myriam¹,Tatopoulos Aurélie³,Renaud Mathilde²⁴,Lambert Laëtitia²⁴,Bursztejn Anne‐Claire⁵,Bonnet Céline¹²^ORCID

Affiliation:

1. Laboratoire de génétique médicale CHRU Nancy Nancy France

2. Université de Lorraine, INSERM UMR_S1256, NGERE Nancy France

3. Service de Médecine Infantile CHRU de Nancy Nancy France

4. Service de génétique médicale CHRU de Nancy Nancy France

5. Département de dermatologie CHRU de Nancy Nancy France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62954

Reference35 articles.

1. Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis

2. New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of fiveELNmutations

3. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

4. Function of Latent TGFβ Binding Protein 4 and Fibulin 5 in Elastogenesis and Lung Development

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2. ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case;European Journal of Medical Genetics;2023-08

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