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- Pregnancy outcome in a woman with prune belly syndromeR Tyler Hillman, Matthew James Garabedian, Robert J WallersteinCase Reports Nov 2012, 2012 bcr-2012-006490; DOI: 10.1136/bcr-2012-006490
- R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick diseaseAradhana Aneja, Aditi Sharma, Ashwin Dalal, Vishal SondhiCase Reports Nov 2012, 2012 bcr2012006959; DOI: 10.1136/bcr-2012-006959
- A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosisAlberto Berenguer, António Pedro Freitas, Gomes Ferreira, José Luis NunesCase Reports Nov 2012, 2012 bcr2012006930; DOI: 10.1136/bcr-2012-006930
- Neonatal stroke associated with de novo antiphospholipid antibody and homozygous 1298C/C methylenetetrahydrofolate reductase mutationPaulo Rego Sousa, Ricardo Figueira, Rui VasconcellosCase Reports Nov 2012, 2012 bcr2012006451; DOI: 10.1136/bcr-2012-006451
- A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girlNadia Nathan, Emmanuelle Girodon, Annick Clement, Harriet CorvolCase Reports Nov 2012, 2012 bcr2012006918; DOI: 10.1136/bcr-2012-006918
- Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-)Louisa Hinterberger, Claudia Pföhler, Thomas Vogt, Cornelia S L MüllerCase Reports Nov 2012, 2012 bcr2012006443; DOI: 10.1136/bcr-2012-006443
- Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequenceGillian A Horne, Timothy ChevassutCase Reports Nov 2012, 2012 bcr2012007305; DOI: 10.1136/bcr-2012-007305
- Novel mutation of SRD5A2 gene in a patient with 5α-reductase 2 deficiency from IndiaIram Shabir, Eunice Marumudi, Madan L Khurana, Rajesh KhadgawatCase Reports Oct 2012, 2012 bcr2012007060; DOI: 10.1136/bcr-2012-007060
- A medical student with symphalangism, would it affect her future career?Ahmed M Saliem, Amal Rashad Nimir, Farkaad A Abdul KadirCase Reports Oct 2012, 2012 bcr2012006668; DOI: 10.1136/bcr-2012-006668
- Caffey disease in neonatal period: the importance of the family!Ana Rita Prior, Oana Moldovan, António Azevedo, Carlos MonizCase Reports Oct 2012, 2012 bcr2012006996; DOI: 10.1136/bcr-2012-006996
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