Bernard‐Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA
Sign Up to like & getrecommendations! Published in 2018 at "Haemophilia"
DOI: 10.1111/hae.13365
Abstract: of VWF:RCo/VWF:Ag was normal in the proband’s parents. Acquired von Willebrand syndrome (AVWS) related tests, such as lymphoproliferative, rheumatism and autoimmune antibody testing, were normal. Further investigation of the cause of AVWS may be of… read more here.
Keywords: mutation; bernard soulier; pakistan biochemical; soulier syndrome ... See more keywords
Traboulsi Syndrome in Pakistan.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2019.06.s37
Abstract: Traboulsi syndrome is characterised by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis and multiple anterior segment abnormalities. The constellation of abnormalities separate it from syndromes related to connective tissue abnormalities which are associated with… read more here.
Keywords: traboulsi syndrome; syndrome pakistan; ectopia lentis;