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  1. No Access

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    Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

    We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relat...

    Vera M. Kalscheuer, David FitzPatrick, Niels Tommerup, Merete Bugge… in Human Genetics (2007)

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    Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

    Rubinstein–Taybi syndrome (RSTS) is a well-known autosomal dominant mental retardation syndrome with typical facial and skeletal abnormalities. Previously, we have reported two patients presenting with RSTS an...

    Oliver Bartsch, Sasan Rasi, Alicia Delicado, Sarah Dyack… in Human Genetics (2006)

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    Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl

    A 7-year-old girl with thoracolumbar kyphoscoliosis was admitted for further diagnostic evaluation after a spinal MRI scan had shown several intraspinal extramedullary lesions. The clinical features including ...

    Irene Brunk, Brigitte Stöver, Chrysanthy Ikonomidou… in European Journal of Pediatrics (2004)

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    Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation

    We report on a 16-month-old boy with congenital disorder of glycosylation type 1a (CDG-1a; OMIM 212065) showing an atypical phenotype. Whereas failure to thrive is known to be a prominent feature in this condi...

    Luitgard M. Neumann, Arpad von Moers, Jürgen Kunze… in European Journal of Pediatrics (2003)

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    Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)

    The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old b...

    Luitgard M. Neumann, Ianina Scheer, Jürgen Kunze, Brigitte Stöver in Pediatric Radiology (2003)

  6. Article

    An Unexpectedly High Frequency of Hypergalactosemia in an Immigrant Bosnian Population Revealed by Newborn Screening

    In galactokinase (GALK) deficiency, galactose cannot be phosphorylated into galactose-1-phosphate, which leads to cataract formation. Neonatal screening for hypergalactosemia in Berlin has been performed by th...

    Susanne Reich, Julia Hennermann, Barbara Vetter, Luitgard M Neumann… in Pediatric Research (2002)

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