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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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| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4469106/ https://ncbi.nlm.nih.gov/pubmed/26051373 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0287-9 |
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