Genetic complexity in Joubert syndrome and related disorders.

Abstract:

:The recent identification of RPGRIP1L as a Joubert syndrome gene brings the total of known genes to five. Three of these are also associated with the lethal Meckel syndrome, and two with Senior-Løken syndrome; both of these disorders share Joubert syndrome phenotypes, illustrating the genetic complexity of this.

journal_name

Kidney Int

journal_title

Kidney international

authors

Harris PC

doi

10.1038/sj.ki.5002577

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

1421-3

issue

12

eissn

0085-2538

issn

1523-1755

pii

S0085-2538(15)52599-4

journal_volume

72

pub_type

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