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Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: Some considerations about familial heterogeneity
(Alliance Communications Group Division Allen PressLawrenceEUA, 2006)
Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
(WILEY-BLACKWELLHOBOKEN, 2012)
The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin ...
Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family
(ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS, 2010)
Objective: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the ...
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations
(Alliance Communications Group Division Allen PressLawrenceEUA, 2004)