共 268 条
[1]
Ndoro S(2020)Osteopathia Striata with Cranial Sclerosis Associated with Moyamoya Disease in a 3-Year-Old Girl Surgical Case Report 3 2-3
[2]
Sheil F(1924)L’image radiologique non encore décrite d'une anomalie du squelette: ses rapports avec la dyschondroplasie et l'osteopathia condensans disseminata Acta Radiol 3 407-90
[3]
Murray D(1935)Generalized diseases of the skeleton Proc R Soc Med 28 1611-100
[4]
Caird J(2010)Osteopathia striata with cranial sclerosis owing to WTX gene defect J Bone Miner Res 25 82-726
[5]
Voorhoeve N(2009)Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis Nat Genet 41 95-211
[6]
Fairbank HAT(1993)Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis? Am J Med Genet 46 724-4
[7]
Perdu B(1997)How to counsel in osteopathia striata with cranial sclerosis Genet Couns 8 207-415
[8]
de Freitas F(2002)Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance Am J Med Genet 107 1-424
[9]
Frints SG(2008)Lower-limb growth: how predictable are predictions? J Child Orthop 2 407-256
[10]
Schouten M(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-388