A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review

OBJECTIVE: Kallmann syndrome (KS) may be accompanied by anosmia or hyposmia and midline defects. We present an overweight 16-year-old boy with a lack of puberty, anosmia, congenital right eye ptosis, and normal intellectual function. METHODS: Testicular ultrasonography was performed. Whole-exome seq...

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Detalles Bibliográficos
Autores principales: Noorian, Shahab, Savad, Shahram, Khavandegar, Armin, Jamee, Mahnaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165205/
https://www.ncbi.nlm.nih.gov/pubmed/34095492
http://dx.doi.org/10.1016/j.aace.2021.01.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165205/
https://www.ncbi.nlm.nih.gov/pubmed/34095492
http://dx.doi.org/10.1016/j.aace.2021.01.007

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