Perrault Syndrome – A Rare Case Report
Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings h...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
JCDR Research and Publications Private Limited
2015-03-01
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Series: | Journal of Clinical and Diagnostic Research |
Subjects: | |
Online Access: | https://jcdr.net/articles/PDF/5641/10992_CE(Ra1)_F(GH)_PF1(NJAK)_PFA(AK)_PF2(PAG).pdf |