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Items: 2

1.
High Incidence of BSCL2 Intragenic Recombinational Mutation in Peruvian Type 2 Berardinelli–Seip Syndrome
Nelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, Fuki M. Hisama, George M. Martin, Junko Oshima
Am J Med Genet A. Author manuscript; available in PMC 2017 Feb 1.
Published in final edited form as: Am J Med Genet A. 2017 Feb; 173(2): 471–478. Published online 2016 Nov 21. doi: 10.1002/ajmg.a.38053
PMCID:
PMC5247312
AbstractArticlePDF–577K
2.
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig, Joakim Klar
BMC Med Genet. 2014; 15: 71. Published online 2014 Jun 24. doi: 10.1186/1471-2350-15-71
PMCID:
PMC4076434
AbstractArticlePDF–1.1M

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