Lethal Restrictive Dermopathy with ZMPSTE24 Mutation.
Pediatr Dev Pathol
; 25(3): 327-329, 2022.
Article
em En
| MEDLINE
| ID: mdl-34961372
ABSTRACT
Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the ZMPSTE24 gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
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Metaloendopeptidases
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Contratura
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Lamina Tipo A
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Proteínas de Membrana
Limite:
Female
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Humans
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Pregnancy
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article