Genetics

CLINICAL /
Genetics

Schizotypy: key feature of Klinefelter’s syndrome?
Willem M A Verhoeven, Jos I M Egger

Case Reports Jul 2011, 2011 bcr0520114279; DOI: 10.1136/bcr.05.2011.4279
Rhizomelic chondrodysplasia punctata: a classic ‘spot’ diagnosis
Robert J Tinnion, Neil Davidson, Paul Moran, Michael Wright, Sundeep Harigopal

Case Reports Jun 2011, 2011 bcr0120113747; DOI: 10.1136/bcr.01.2011.3747
Abdominal pain in a 5-year-old boy
Rebecca Thompson, Vijayalakshmi Kothandaraman

Case Reports Jun 2011, 2011 bcr1220103560; DOI: 10.1136/bcr.12.2010.3560
Problems with the new born screen for galactosaemia
John I Malone, Alicia Diaz-Thomas, Kathleen Swan

Case Reports Jun 2011, 2011 bcr0120113769; DOI: 10.1136/bcr.01.2011.3769
Acrocallosal syndrome in a young hypertensive male
Vishal V Ramteke, Pramod A Darole, Zohaib Farooqui Shaikh, Namita J Padwal, Brijesh Agrawal, Makardhwaj S Shrivastava, Sandhya Kamath

Case Reports Jan 2011, 2011 bcr1220103648; DOI: 10.1136/bcr.12.2010.3648
Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia
Pallavi Tyagi, Vipin Tyagi, Adnan A Hashim

Case Reports Jan 2011, 2011 bcr0120113731; DOI: 10.1136/bcr.01.2011.3731
Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene
Ibrahim Imam, Jeremy Brown, Philip Lee, P K Thomas, Hadi Manji

Case Reports Jan 2011, 2011 bcr1120103552; DOI: 10.1136/bcr.11.2010.3552
Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy
Sanjeev Rajakulendran, Sreeman Andole, Angus Kennedy

Case Reports Jan 2011, 2011 bcr0120113784; DOI: 10.1136/bcr.01.2011.3784
Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence
Cheng-Hiang Lee, Roy A J Spence, Meena Upadhyaya, Patrick J Morrison

Case Reports Jan 2011, 2011 bcr1020103395; DOI: 10.1136/bcr.10.2010.3395
Meningocele following aplasia of the occipital bone
Torbjørn M Eggebø, Janne Brathetland, Hege U Dirdal, Gunnar Houge

Case Reports Jan 2011, 2011 bcr1020103437; DOI: 10.1136/bcr.10.2010.3437

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CLINICAL
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