Raine syndrome

Al-Gazali LI et al. (2003) Further delineation of Raine syndrome.

Chitayat D et al. (2007) Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

Mahafza T et al. (2001) Raine syndrome: report of a case with hand and foot anomalies.

Acosta AX et al. (2000) Raine dysplasia: a Brazilian case with a mild radiological involvement.

Shalev SA et al. (1999) Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

None (1998) Raine syndrome.

FitzPatrick DR et al. (1998) Clinical phenotype of desmosterolosis.

Al Mane KA et al. (1996) Intracranial calcification in Raine syndrome.

Raine J et al. (1989) Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

Kan AE et al. (1992) New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).

Patel PJ et al. (1992) Osteopetrosis: brain ultrasound and computed tomography findings.

Takeyari S et al. (2014) Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

Faundes V et al. (2014) Raine syndrome: an overview.

Acevedo AC et al. (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Liu P et al. (2014) Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.

Kinoshita Y et al. (2014) Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.

Wang X et al. (2015) The specific role of FAM20C in dentinogenesis.

Vogel P et al. (2012) Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.

Hao J et al. (2007) Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation.

Nalbant D et al. (2005) FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.

Tagliabracci VS et al. (2012) Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.

Fradin M et al. (2011) Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

Simpson MA et al. (2009) Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Simpson MA et al. (2007) Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Hülskamp G et al. (2003) Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome.

Kingston HM et al. (1991) A new lethal sclerosing bone dysplasia.

Orphanet article

OMIM.ORG article

Wikipedia article