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Article

SENP7-Related Fatal Arthrogryposis Multiplex Congenita and Immunodeficiency: A Novel Missense Variation and Syndromic Delineation.

Clinical genetics - 1 Dec 2025

Pal Pratima, Nerakh Gayatri, Bhat Shreya, Siby Elizabeth, Undamatla Valli, Vavilala Suseela, Kolar Geeta, Das Bhowmik Aneek, Tallapaka Karthik Bharadwaj

Abstract excerpt

of prominent clinical features and molecular findings of SENP7-associated disorder in previous cases and our case.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41177942
DOI: 10.1111/cge.70047

Genes

SENP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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