Article
Clinical and genetic heterogeneity of Seckel syndrome.
American journal of medical genetics - 1 Nov 2002
Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier A B, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V
Abstract excerpt
Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping...
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