OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.

Item
http://www.wikidata.org/entity/Q39533503
Joubert Syndrome and related disordersMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinJoubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationDelineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Developmental disorders of the midbrain and hindbrain.The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports.Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis.Prenatal diagnosis of Joubert syndrome: a case report.Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation.Diagnostic approach to cerebellar disease in children.
P2860

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.

Item
http://www.wikidata.org/entity/Q39533503
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@en
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@nl
type
label
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@en
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@nl
prefLabel
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@en
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1096-8628(20000313)91:2<135::AID-AJMG11>3.0.CO;2-1
P433
P478
P577
P698