Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

Table 4

Some syndromes and conditions which include abnormal vertebral segmentation

Acrofacial dysostosis*	Kaufman-McKusick
*Underlying cause not known.
Aicardi*	Klippel-Feil*
Alagille	Larsen*
Anhalt*	Lower vertebral agenesis*
Atelosteogenesis III	Maternal diabetes
Axial mesodermal dysplasia*	MURCS association*
Casamassima*	Multiple pterygium syndrome*
Caudal regression*	Pascual-Castroviejo*
CHARGE association*	PHAVER*
Chromosomal abnormalities	RAPADILINO*
Congenital scoliosis*	Robinow
Covesdem*	Rolland-Desbuquois*
Currarino*	Rokitansky sequence*
De la Chapelle*	Simpson-Golabi-Behmel
DiGeorge/Sedláčková	Silverman*
Dysspondylochondromatosis*	Sirenomelia*
Femoral hypoplasia-unusual facies*	Spondylocarpotarsal dysostosis*
Fibrodysplasia ossificans progressiva*	Spondylocostal dysostosis
Frontonasal dysplasia*	Thakker-Donnai*
Fryns-Moerman*	Toriello*
Goldenhar/facio-auriculo-vertebral spectrum*	Urioste*
Holmes-Schimke*	VATER/VACTERL associations*
Incontinentia pigmenti	Verhove-Vanhorick*
Jarcho-Levin*	Wildervanck*
Kabuki*	Zimmer*

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Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

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