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Abstract 150: Whole exome sequencing of siblings identifies a novel variant p.A399fs in ANOS1 gene associated with Kallman syndrome
Background: Kallman Syndrome is an uncommon condition characterised by absent pubertal development and abnormalities of smell, secondary to GnRH deficiency and aplasia or hypoplasia of the olfactory bulb. Kallman Syndrome is the most common cause of isolated hypogonadotropic hypogonadism, but in the...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Wolters Kluwer - Medknow
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067874/ http://dx.doi.org/10.4103/2230-8210.342275 |