Osteopathia striata mit kranialer Sklerose

Perdu B et al. (2010) Osteopathia striata with cranial sclerosis owing to WTX gene defect.

Lazar CM et al. (1999) Clinical vignette: osteopathia striata with cranial sclerosis.

Bueno AL et al. (1998) Severe malformations in males from families with osteopathia striata with cranial sclerosis.

Nakamura K et al. (1998) Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility.

Pellegrino JE et al. (1997) Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?

Clementi M et al. (1993) Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

Whyte MP et al. (1980) Osteopathia striata associated with familial dermopathy and white forelock: evidence for postnatal development of osteopathia striata.

Paling MR et al. (1981) Osteopathia striata with sclerosis and thickening of the skull.

Winter RM et al. (1980) Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

Bass HN et al. (1980) Osteopathia striata syndrome. Clinical, genetic and radiologic considerations.

Horan FT et al. (1978) Osteopathia striata with cranial sclerosis. An autosomal dominant entity.

Jones MD et al. (1968) Osteopathia striata, osteopetrosis, and impaired hearing. A case report.

Nakamura T et al. (1985) Osteopathia striata with cranial sclerosis affecting three family members.

Kornreich L et al. (1988) Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy.

Ward LM et al. (2004) Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl.

Rott HD et al. (2003) Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).

RUCKER TN et al. (1964) A RARE FAMILIAL SYSTEMIC AFFECTION OF THE SKELETON: FAIRBANK'S DISEASE.

Viot G et al. (2002) Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

Behninger C et al. (2000) Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance.

Savarirayan R et al. (1997) Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.

Keymolen K et al. (1997) How to counsel in osteopathia striata with cranial sclerosis.

König R et al. (1996) Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

Holman SK et al. (2011) The male phenotype in osteopathia striata congenita with cranial sclerosis.

Perdu B et al. (2011) Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

Jenkins ZA et al. (2009) Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

OMIM.ORG article