[Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling]

Autor:	C, Martello, G, Stangoni, D, Mezzetti, A, Calabro, D, Cianfrini, M S, Lungarotti
Rok vydání:	1992
Předmět:	Adult Chromosome Aberrations Male Dysostoses Humans Chromosome Disorders Female Genetic Counseling Ribs Spine Genes Dominant Pedigree
Zdroj:	La Pediatria medica e chirurgica : Medical and surgical pediatrics. 14(4)
ISSN:	0391-5387
Popis:	The Authors report a new family with spondylo-costal dysplasia in which three members in three generation are affected. The genetic heterogeneity of the condition and its implication in genetic counseling is discussed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::3eb93576fbb3ca914c2223d96ad8fa6f https://pubmed.ncbi.nlm.nih.gov/1461791 Zobrazit plný text záznamu