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| Differences in sex development v4.14 | FGFR1 |
Rabina Akhtar gene: FGFR1 was added gene: FGFR1 was added to Differences in sex development. Sources: Literature,Research Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR1 were set to (PMID: 41108094; 34589657; 32853167) Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with out without anosmia Penetrance for gene: FGFR1 were set to Complete Review for gene: FGFR1 was set to GREEN gene: FGFR1 was marked as current diagnostic Added comment: PMID:41108094 reports a 14 year old male patient with micropenis, hypoplasia of the testes and angulation of the penis and was found to have a likely pathogenic FGFR1 c.263_264del p.Val88Alafs*22. PMID:34589657 reports a 7 year old male patient with history of bilateral cryptorchidism and was found to have a pathogenic FGFR1 c.1955A>C p.His652pro. PMID: 32853167 reports a 16 year old male with micropenis and bilateral cryptorchidism and was found to have a FGFR1 c.1864C>T p.Arg622* Additional male patient identified at WMGL with bilateral cryptorchidism and micropenis was found to have FGFR1 c.2008G>A p.Glu670Lys Sources: Literature, Research |
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