Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait

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Marafie, Makia J; Al-Mulla, Fahd;
(2014)
  • Publisher: Elsevier BV
  • Journal: Egyptian Journal of Medical Human Genetics,volume 15,issue 2,pages203-207 (issn: 1110-8630)
  • Publisher copyright policies & self-archiving
  • Related identifiers: doi: 10.1016/j.ejmhg.2013.12.003
  • Subject: QH426-470 | Genetics(clinical) | Genetics | Nephronophthisis | Consanguinity | R5-920 | Medicine (General) | Senior-Loken syndrome | Premarital counselling | Arab | Ciliopathy

Background: Rare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan disorder, which combine... View more
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