MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
about
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouseInositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesPDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinityClinical and molecular features of Joubert syndrome and related disorders.Phosphoinositide phosphatases and disease.Clinical variability of genetic isolates of Cohen syndrome.Phosphatidylinositolphosphate phosphatase activities and cancer.Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.The cilium: a cellular antenna with an influence on obesity risk.Mechanisms for nonmitotic activation of Aurora-A at cilia.Photoreceptor Cilia and Retinal Ciliopathies.A systematic review of genetic syndromes with obesity.
P2860
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P2860
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
description
2006 nî lūn-bûn
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2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
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name
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@ast
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@en
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@nl
type
label
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@ast
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@en
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@nl
prefLabel
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@ast
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@en
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@nl
P2093
P2860
P356
P1476
MORM syndrome (mental retardat ...... ssive disorder, links to 9q34.
@en
P2093
C Geoffrey Woods
Daniel J Hampshire
Emma Roberts
Hussain Jafri
Jacquelyn Bond
John H Riley
Kelly Springell
Mohammed Ayub
Yasmin Rashid
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201577
P577
2006-05-01T00:00:00Z