Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Abstract Background Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion syndrome involving the two genes SULF1 and SLCO5A...

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Bibliographic Details
Main Authors: Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos
Format: Article
Language:English
Published: BMC 2024-07-01
Series:Molecular Cytogenetics
Subjects:
Balanced translocations
GABRA5
Mesomelia-Synostoses syndrome
SLCO5A1
SULF1; enhancer adoption
Online Access:https://doi.org/10.1186/s13039-024-00684-2

Internet

https://doi.org/10.1186/s13039-024-00684-2

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