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Items: 3

1.
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances V. Elmslie, Muriel Holder-Espinasse, Melita Irving, Anand K. Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande, Michael A. Simpson
Am J Hum Genet. 2012 Aug 10; 91(2): 358–364. doi: 10.1016/j.ajhg.2012.06.008
PMCID:
PMC3415539
AbstractArticlePDF–351K
2.
Familial hypertrichosis cubiti: hairy elbows syndrome.
P Beighton
J Med Genet. 1970 Jun; 7(2): 158–160. doi: 10.1136/jmg.7.2.158
PMCID:
PMC1468803
SummaryPage BrowsePDF–894K
3.
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
K D MacDermot, M A Patton, M J Williams, R M Winter
J Med Genet. 1989 Jun; 26(6): 382–385. doi: 10.1136/jmg.26.6.382
PMCID:
PMC1015623
SummaryPage BrowsePDF–831K

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