Genetic and physical mapping of Xq24–q26 markers flanking the Lowe oculocerebrorenal syndrome
DS Reilly, RA Lewis, RL Nussbaum - Genomics, 1990 - Elsevier
The Lowe oculocerebrorenal syndrome (OCRL) is characterized by congenital cataract,
mental retardation, and renal tubular dysfunction. We are using the approaches of linkage …
mental retardation, and renal tubular dysfunction. We are using the approaches of linkage …
Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family
M Petridou, V Kimiskidis, K Deligiannis… - Clinical neurology and …, 1997 - Elsevier
We report on a case of Borjeson-Forssman-Lehmann syndrome (BFS) in which two sisters
appear with the clinical picture of severe mental handicap, dysmorphic features and grand …
appear with the clinical picture of severe mental handicap, dysmorphic features and grand …
Report of the committee on clinical disorders and chromosomal deletion syndromes
J Frézal, A Schinzel, MS Baule… - Cytogenetic and Genome …, 1990 - karger.com
J. Frezal A. Schinzel MS Baule DJ Cockburn Since HGM10, quite a number of clinical
disorders have been mapped. In addition, the genes for cystic fibrosis, for neurofibromatosis …
disorders have been mapped. In addition, the genes for cystic fibrosis, for neurofibromatosis …
[引用][C] Bibliography on X‐linked mental retardation, the fragile X, and related subjects V (1991)
LVM Spano, JM Opitz - American Journal of Medical Genetics, 1991 - Wiley Online Library
As promised in previous issues, from time to time we shall provide the readers of the
American Journal of Medical Genetics with an updated bibliography on X-linked mental …
American Journal of Medical Genetics with an updated bibliography on X-linked mental …