Distal arthrogryposis type 1: clinical analysis of a large kindred.
about
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeMutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromesGain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisA variant of Freeman-Sheldon syndrome maps to 11p15.5-pterClinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)A revised and extended classification of the distal arthrogryposesMyosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1[Paraplegia as initial manifestation of tethered spinal cord. Case report].Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
P2860
Q24321590-6507B128-CEF6-4C5B-A0BC-9E7F6841FEAFQ24531960-DD32374E-D117-4D61-AC66-58DFC0B28852Q24599379-9D28F7E6-0660-4A04-A242-641DC939E7B3Q24681011-BBEDA7BC-3EF6-46F2-B987-B17AB37D3A5DQ28265153-32EEF3EC-B711-4817-A9C9-C1348FE82F8EQ28297209-B944F851-6855-4DAC-92A6-56E6578B7C8FQ33727470-909CF542-E950-4BD4-97D9-CE38C5B367D2Q39438745-7BC4F650-D507-4FE7-8372-C9AE4D476531Q42285203-77DB3F36-F0ED-4C51-9804-6D25F4157667
P2860
Distal arthrogryposis type 1: clinical analysis of a large kindred.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
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1996年學術文章
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1996年學術文章
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name
Distal arthrogryposis type 1: clinical analysis of a large kindred.
@en
Distal arthrogryposis type 1: clinical analysis of a large kindred.
@nl
type
label
Distal arthrogryposis type 1: clinical analysis of a large kindred.
@en
Distal arthrogryposis type 1: clinical analysis of a large kindred.
@nl
prefLabel
Distal arthrogryposis type 1: clinical analysis of a large kindred.
@en
Distal arthrogryposis type 1: clinical analysis of a large kindred.
@nl
P2093
P2860
P1476
Distal arthrogryposis type 1: clinical analysis of a large kindred.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R
P577
1996-11-01T00:00:00Z