Craniosynostosis Autosomal Dominant Latest Advances

An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: December 14, 2004

Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

Journal: American journal of medical genetics

Published: January 25, 2002

Lowry-Maclean syndrome with osteopenic bones and possible autosomal dominant inheritance in a Bedouin family.

Journal: American journal of medical genetics

Published: February 07, 1998

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

Journal: American journal of medical genetics

Published: December 02, 1996

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Journal: Nature genetics

Published: October 01, 1996

Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.

Journal: American journal of medical genetics

Published: March 15, 1996

Craniosynostosis with autosomal dominant transmission in New Zealand white rabbits.

Journal: Journal of craniofacial genetics and developmental biology

Published: January 01, 1996

Autosomal dominant holocalvarial craniosynostosis.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: November 01, 1995

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.

Journal: Cell

Published: November 05, 1993

Newly recognized autosomal dominant disorder with craniosynostosis.

Journal: American journal of medical genetics

Published: June 01, 1993

Autosomal dominant craniosynostosis of the sutura metopica.

Journal: Clinical genetics

Published: November 01, 1990

Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?

Journal: Clinical genetics

Published: September 01, 1983

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An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

Lowry-Maclean syndrome with osteopenic bones and possible autosomal dominant inheritance in a Bedouin family.

Lowry-Maclean syndrome with osteopenic bones and possible autosomal dominant inheritance in a Bedouin family.

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.

Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.

Craniosynostosis with autosomal dominant transmission in New Zealand white rabbits.

Craniosynostosis with autosomal dominant transmission in New Zealand white rabbits.

Autosomal dominant holocalvarial craniosynostosis.

Autosomal dominant holocalvarial craniosynostosis.

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.

Newly recognized autosomal dominant disorder with craniosynostosis.

Newly recognized autosomal dominant disorder with craniosynostosis.

Autosomal dominant craniosynostosis of the sutura metopica.

Autosomal dominant craniosynostosis of the sutura metopica.

Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?

Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?