Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

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Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1995

Plomp A S, De Die-Smulders C E, Meinecke P, Ypma-Verhulst J M, Lissone D A, Fryns J P

Abstract excerpt

We present three patients with the Coffin-Lowry syndrome, two males aged 21 years and 14 months respectively, and an unrelated girl aged 11 years. In the male patients the features at different ages are reviewed. Besides, we describe the pertinent features of their affected female relatives. The contribution of the family history to making the diagnosis is stressed. The isolated female proband is much more...

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