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Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report

BACKGROUND: Xp22.3 region is characterized by low frequency of interspersed repeats and low GC content. Several clinically important genes including ANOS1 (KAL1) reside in this region. This gene was first identified due to translocation between chromosomes X and Y in a patient with Kallmann syndrome...

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Detalles Bibliográficos
Autores principales: Sait, Haseena, Srivastava, Priyanka, Dabadghao, Preeti, Phadke, Shubha R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669406/
https://www.ncbi.nlm.nih.gov/pubmed/34987993
http://dx.doi.org/10.18502/jri.v22i4.7657