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Coffin‐Lowry syndrome: a multicenter study
Author(s) -
Gilgenkrantz S.,
Mujica P.,
Gruet P.,
Tridon P.,
Schweitzer F.,
NivelonChevallier A.,
Nivelon J. L.,
Couillault G.,
David A.,
Verloes A.,
Lambotte C.,
Piussan Ch.,
Mathieu M.
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb02870.x
Subject(s) - inheritance (genetic algorithm) , x linked recessive inheritance , autosomal recessive inheritance , coffin , growth retardation , genetic inheritance , genetics , medicine , pediatrics , biology , anatomy , x chromosome , pregnancy , gene
The Coffin‐Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male‐to‐male transmission, suggests an X‐linked inheritance. The paper describes seven families from five European Centers.