Restrictive Dermopathy Due to ZMPSTE24 Mutation: A Case Report with a Novel Finding of Corpus Callosum Agenesis-Reference-Cited by-同舟云学术

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Restrictive Dermopathy Due to ZMPSTE24 Mutation: A Case Report with a Novel Finding of Corpus Callosum Agenesis

Published:2024-01 Issue:1 Volume:69 Page:95-97
ISSN:0019-5154
Container-title:Indian Journal of Dermatology
language:en
Short-container-title:

Author:

Chiramel Minu Jose¹,Sathishkumar Dharshini¹,Santhanam Sridhar²,Ponmudi Nithya J²,Telugu Ramesh Babu³,Mohan Sony⁴,Athiyarath Rekha⁴

Affiliation:

1. From the Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India

2. Department of Neonatology, Christian Medical College, Vellore, Tamil Nadu, India

3. Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India

4. Department of Medical Genetics, Christian Medical College, Vellore, Tamil Nadu, India E-mail: dharshsathish@gmail.com

Publisher

Medknow

Reference5 articles.

1. Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy;Matulevičienė;Clin Dysmorphol,2016

2. Restrictive dermopathy:Report and review;Mau;Am J Med Genet,1997

3. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update;Navarro;Eur J Hum Genet EJHG,2014

4. A new case of Neu–Laxova syndrome:Infant with facial dysmorphism, arthrogryposis, ichthyosis, and microcephalia;Barekatain;Adv Biomed Res,2018

5. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors;Navarro;Hum Mol Genet,2005

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