Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

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 detectio...

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Veröffentlicht in:	Orphanet journal of rare diseases 2015-06, Vol.10 (1), p.71-71, Article 71
Hauptverfasser:	Sarfati, Julie, Bouvattier, Claire, Bry-Gauillard, Hélène, Cartes, Alejandra, Bouligand, Jérôme, Young, Jacques
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Extracellular Matrix Proteins - genetics Female Fetus - metabolism Genetic aspects Genetic disorders Health aspects Humans Kallmann Syndrome - diagnosis Kallmann Syndrome - genetics Letter to the Editor Medical genetics Mutation Nerve Tissue Proteins - genetics Pedigree Pregnant women Receptor, Fibroblast Growth Factor, Type 1 - genetics Risk factors
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