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Article

Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

9 Jun 2015

Abstract excerpt

Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26051373
DOI: 10.1186/s13023-015-0287-9

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

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