相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Delineation of Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome: Observation of Two Additional Patients and Comprehensive Review of 20 Reported Patients
Kenji Shimizu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome. Which name is appropriate, Adducted Thumb-Clubfoot Syndrome or Ehlers-Danlos syndrome?
Tomoki Kosho et al.
HUMAN MUTATION (2011)
Loss of Dermatan-4-sulfotransferase 1 (D4ST1/CHST14) Function Represents the First Dermatan Sulfate Biosynthesis Defect, Dermatan Sulfate-Deficient Adducted Thumb-Clubfoot Syndrome''
Andreas R. Janecke et al.
HUMAN MUTATION (2011)
Dermatan sulfotransferase Chst14/D4st1, but not chondroitin sulfotransferase Chst11/C4st1, regulates proliferation and neurogenesis of neural progenitor cells
Shan Bian et al.
JOURNAL OF CELL SCIENCE (2011)
Novel findings in the Marden-Walker syndrome
Tom Theys et al.
JOURNAL OF PEDIATRIC SURGERY (2011)
An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins
Munis Dundar et al.
CLINICAL GENETICS (2010)
Marden-Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene
J. P. Fryns et al.
CLINICAL GENETICS (2010)
Musculocontractural Ehlers-Danlos Syndrome (Former EDS Type VIB) and Adducted Thumb Clubfoot Syndrome (ATCS) Represent a Single Clinical Entity Caused by Mutations in the Dermatan-4-sulfotransferase 1 Encoding CHST14 Gene
Fransiska Malfait et al.
HUMAN MUTATION (2010)
Loss-of-Function Mutations of CHST14 in a New Type of Ehlers-Danlos Syndrome
Noriko Miyake et al.
HUMAN MUTATION (2010)
Biosynthesis of dermatan sulfate -: Chondroitin-glucuronate C5-epimerase is identical to SART2
M Maccarana et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
T Kosho et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Dermatan sulfate: new functions from an old glycosaminoglycan
JM Trowbridge et al.
GLYCOBIOLOGY (2002)
A case with adducted thumb and club foot syndrome
M Dundar et al.
CLINICAL DYSMORPHOLOGY (2001)
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family
AR Janecke et al.
JOURNAL OF MEDICAL GENETICS (2001)