Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and P...

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Vydáno v:	Journal of medical genetics Ročník 43; číslo 2; s. 148 - 152
Hlavní autoři:	Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London BMJ Publishing Group Ltd 01.02.2006 BMJ BMJ Publishing Group LTD BMJ Group
Témata:	Abnormalities, Multiple - genetics Adenosine Triphosphatases - genetics Age Anemia Baller-Gerold syndrome BGS Biological and medical sciences Birth defects Cardiology. Vascular system Child Child, Preschool Craniosynostoses - genetics craniosynostosis Diseases of the osteoarticular system DNA Helicases - genetics DNA Mutational Analysis Families & family life Female Fetuses General aspects. Genetic counseling Humans Infant Infant, Newborn limb defect Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Mutation Mutation - genetics occipito-frontal circumference OFC Patients poikiloderma Pregnancy radial ray Radius - pathology RecQ Helicases Rothmund-Thomson syndrome RTS Short Report skin Sutures Syndrome Ultrasonic imaging Human Hypoplasia Nervous system diseases Craniosynostosis Diseases of the osteoarticular system Dysostosis Syndrome Association Gene Malformation Skull disease Genetics Mutation
ISSN:	0022-2593, 1468-6244, 1468-6244
On-line přístup:	Získat plný text
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