A de novo GLI3 mutation in a patient with acrocallosal syndrome
about
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.New insights into genotype-phenotype correlation for GLI3 mutations.The Hedgehog pathway: role in cell differentiation, polarity and proliferationPrimary cilia in neurodevelopmental disorders.Pallister-Hall syndrome has gone the way of modern medical genetics.Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.GLI3-related polydactyly: a review.The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.Preaxial polydactyly of the foot.Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.Role of GLI Transcription Factors in Pathogenesis and Their Potential as New Therapeutic TargetsCounter-Balance Between Gli3 and miR-7 Is Required for Proper Morphogenesis and Size Control of the Mouse Brain
P2860
Q33879555-2C8A45F2-2051-4CC2-8770-C331BA5473B9Q34705130-2B9F0BD5-6504-480A-9517-0C3B02E072AEQ36240079-68E41092-D974-491F-B3C5-DE217F535240Q38168054-F11BD32E-C5F6-4A47-B4A9-16E34D1C69ECQ38271423-AAC21E24-1051-43F0-AB8D-31AE07559B2EQ38663413-197D0E24-CAD8-496A-ADAA-4142BFD5E4F2Q39146281-9AEEDC92-ACDA-43EB-8E7D-F5E22FC48FB3Q40839071-685F90D1-7273-48BE-865E-BC76A1B3D441Q50043055-2E7A1B14-E1F1-49E3-A2D9-6DA1A91754F2Q52152070-C48B4F36-09A6-4C88-A786-D7CCE173A34CQ58692807-E3346020-5B5B-4276-9E72-440A0D82E10DQ58768099-CEFD2046-9888-4F57-AB0E-CF6351604FBE
P2860
A de novo GLI3 mutation in a patient with acrocallosal syndrome
description
im Juni 2013 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 2013
@uk
name
A de novo GLI3 mutation in a patient with acrocallosal syndrome
@en
A de novo GLI3 mutation in a patient with acrocallosal syndrome
@nl
type
label
A de novo GLI3 mutation in a patient with acrocallosal syndrome
@en
A de novo GLI3 mutation in a patient with acrocallosal syndrome
@nl
prefLabel
A de novo GLI3 mutation in a patient with acrocallosal syndrome
@en
A de novo GLI3 mutation in a patient with acrocallosal syndrome
@nl
P2093
P2860
P356
P1476
A de novo GLI3 mutation in a patient with acrocallosal syndrome
@en
P2093
A Jeannette M Hoogeboom
Ans M van den Ouwenland
Carsten Bergmann
Hanno J Bolz
Irenaneus F M de Coo
Leonie Speksnijder
Maarten F C M Knapen
Maarten H Lequin
Marja W Wessels
Patrick J Willems
P2860
P304
P356
10.1002/AJMG.A.35874
P407
P577
2013-06-01T00:00:00Z