Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.

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Tytuł:: Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.
Autorzy:: Nambiar PN; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Kumar S S; Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Menon R; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Nair SS; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Madhavilatha GK; Department of Genetic Counselling, MedGenome Labs Ltd, Bangalore, India.
Sundaram S; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2020 Feb; Vol. 41 (1), pp. 99-100. Date of Electronic Publication: 2020 Feb 20.
Typ publikacji:: Case Reports; Letter
Język:: English
Imprint Name(s):: Publication: London : Informa Healthcare
Original Publication: Buren, The Netherlands : Aeolus Press, c1994-
MeSH Terms:: Mutation*
Ophthalmoplegia, Chronic Progressive External/*pathology
Receptors, Cell Surface/*genetics
Scoliosis/*pathology
Child ; Female ; Humans ; Infant ; Male ; Ophthalmoplegia, Chronic Progressive External/genetics ; Scoliosis/genetics ; Siblings
Substance Nomenclature:: 0 (ROBO3 protein, human)
0 (Receptors, Cell Surface)
SCR Disease Name:: Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Entry Date(s):: Date Created: 20200221 Date Completed: 20210311 Latest Revision: 20210311
Update Code:: 20240105
DOI:: 10.1080/13816810.2020.1727537
PMID:: 32077773
: Raport

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