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10.1002/ccr3.1014

http://scihub22266oqcxt.onion/10.1002/ccr3.1014
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C5494409!5494409!28680619
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suck abstract from ncbi


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pmid28680619      Clin+Case+Rep 2017 ; 5 (7): 1167-9
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  • Barber?say syndrome: a confirmed case of TWIST2 gene mutation #MMPMID28680619
  • Yohannan MD; Hilgeman J; Allsbrook K
  • Clin Case Rep 2017[Jul]; 5 (7): 1167-9 PMID28680619show ga
  • Barber?Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.
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