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A forkhead-domain gene is mutated in a severe speech and language disorder
Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory orExpand
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by arrayExpand
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inheritedExpand
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Congenital leptin deficiency is associated with severe early-onset obesity in humans
The extreme obesity of the obese (ob/ob) mouse is attributable to mutations in the gene encoding leptin, an adipocyte-specific secreted protein which has profound effects on appetite and energyExpand
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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome,Expand
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Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacentExpand
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mentalExpand
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Heterozygous mutations of OTX2 cause severe ocular malformations.
Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining lociExpand
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An extended Family with a Dominantly Inherited Speech Disorder
A three‐generation family is described in which 16 members have a severe developmental verbal dyspraxia. Inheritance is autosomal dominant, with full penetrance. Intelligence and hearing are normal.
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Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provideExpand
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