Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
about
Sox proteins in melanocyte development and melanoma.Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafnessUnilateral cochlear nerve deficiency in children.Hearing loss in Waardenburg syndrome: a systematic review.Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.Olfactory ensheathing glia are required for embryonic olfactory axon targeting and the migration of gonadotropin-releasing hormone neurons.Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.
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P2860
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
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2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
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2009年學術文章
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name
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
@en
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
@nl
type
label
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
@en
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
@nl
prefLabel
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
@en
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
@nl
P2093
P356
P1476
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
@en
P2093
C P Barnett
P W Chiang
R Mendoza-Londono
P2860
P304
P356
10.1002/AJMG.A.32657
P407
P577
2009-03-01T00:00:00Z