Page 238 - ASHG 2013 Program Guide

POSTER SESSIONS
  225
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2767
T Investigations on the molecular genetic
etiology of Mayer-Rokitansky-Kuster-Hauser
syndrome in two cousins using exome sequencing.
M. Herlin, S. P. Jonstrup, A. T. Højland, I. S. Pedersen,
P. H. Madsen, A. Ernst, H. Okkels, V. Q. Le, H. Krarup,
M. B. Petersen.
2768
F Novel patient with cutis laxa, fat pads and
retinopathy due to
ALDH18A1
mutations and review
of the literature.
E. V. van Asbeck, D. F. G. J. Wolthuis,
M. Mohamed, T. Gardeitchik, E. Morava.
2769
W Missense mutation of
MAF
in a Japanese
family with congenital cataract.
Y. Narumi, S. Nishina,
M. Tokimitsu, Y. Aoki, R. Kosaki, T. Kosho, T. Murata, F.
Takada, Y. Fukushima.
2770
T Clinical and mutational spectrum of type II
collagenopathy patients in Korea.
E. Ra, H. Park,
S. H. Seo, S. I. Cho, T. J. Cho, N. Park, M. W. Seong,
S. S. Park.
2771
F Clinical spectrum of eye malformations in 4 new
patients with Mowat Wilson syndrome.
A. Bourchany,
I. Giurgea, J. Thevenon, A. Goldenberg, G. Morin, D.
Bremond-Gignac, P.-O. Lafontaine, D. Thouvenin, J.
Massy, A. Masurel-Paulet, C. Thauvin-Robinet, S. El
Chehadeh, S. Lyonnet, L. Faivre.
2772
W A case of autosomal dominant cutis laxa
within a familial context of consanguinity.
M. B. Duz, A.
Gezdirici, E. Koparir, E. Yosunkaya, H. Ulucan, M. Seven,
A. De Paepe, P. J. Coucke, B. Calleweart, M. Ozen.
2773
T Weaver syndrome: Variable expression and
natural history in a three generation family with
documented
EZH2
mutation.
H. Hoyme, A. R. Mroch,
P. L. Crotwell, Y. E. Hsia, L. Hasegawa, S. Lee, L. H.
Seaver.
2774
F Xeroderma pigmentosum complementation
group B / trichothiodystrophy spectrum in two siblings
with
ERCC3
mutations.
M. Migliavacca, N. Sobreira, S.
Bragagnolo, M. Ramos, D. Valle, A. Perez.
2775
W Craniofacial phenotypes in cutis laxa.
Z. Urban,
C. Lorenchick, T. E. Parsons, K. Levine, S. Madan-
Khetarpal, S. M. Weinberg.
2776
T Expanding the
RAD21
mutational spectrum:
Report of the first intragenic deletion and frameshift
mutation in two patients with a mild form of Cornelia
de Lange syndrome.
A. Minor, M. Shinawi, J. S. Hogue,
D. R. Hamlin, C. Tan, K. Donato, L. Wysinger, S. Botes,
S. Das, D. del Gaudio.
2777
F Two novel mutations in a patient with rhizomelic
chondrodysplasia punctate type 1.
H. Onay, M. Saka
Guvenc, T. Atik, A. Aykut, O. Cogulu, F. Ozkinay.
2778
W Hereditary multiple osteochondromas:
Molecular characterization of three Cypriot families
and report of two novel
EXT1
gene deletions.
G. A.
Tanteles, V. Neocleous, C. Shammas, E. Ellina, L. A.
Phylactou, C. Sismani, V. Anastasiadou-Christophidou.
2753
F Mutation analysis of androgen receptor gene:
A complementary molecular approach in management
of androgen insensitivity syndrome.
F. Baghbani-
arani, A. Shojaei, F. Behjati, R. Ebrahimzadeh-Vesal, J.
Tavakkoly-Bazzaz.
2754
W Ocular findings in the Marfan synd ome.
I. H.
Maumenee, S. Wehrli, W. W. Xu, S. Rahmani, S. Kurup,
I. Kassem, M. K. Durbin, N. Azar, A. A. Fawzi, A. Lyon, M.
B. Mets, Chicago Marfan Eye Consortium.
2755
T Peace sign craniosynostosis: A novel
presentation in association with Saethre-Chotzen
syndrome.
D. M. McDonald-McGinn, N. Bastidas, A.
Santani, C. Stolle, C. Bergfield, S. Bartlett, E. H. Zackai.
2756
F Characterization of three families with provisional
diagnosis of autosomal dominant retinitis pigmentosa
using whole exome sequencing.
L. Vazquez, J. Liang,
B. Almoguera, X. Liu, P. Fernandez, Y. Guo, M. Corton, B.
Keating, X. Xu, C. Ayuso, H. Hakonarson, J. Wang.
2757
W Unexplained persistently elevated liver
transaminase levels — A presenting feature for
Duchenne/Becker muscular dystrophy.
J. A. Wilkinson,
M. Martin, B. Hay.
2758
T Phenotypic evolution in Börjeson-Forssman-
Lehmann syndrome: Serial photos, endocrine findings
and dermatologic observations.
G. Graham, N. Carson,
D. Picketts.
2759
F Identification of a missense mutation in the
MBTPS2
gene as the cause of X-linked form of
Olmsted syndrome.
A. Haghighi, C. Scott, D. Poon,
R. Yaghoobi, N. Saleh-Gohari, V. Plagnol, D. Kelsell.
2760
W Exudative retinopathy, cerebral calcifications,
duodenal atresia, preaxial polydactyly, micropenis,
microcephaly and short stature: A new syndrome?
B. Isidor, A. David, Y. Crow.
2761
T Psychological and cognitive profile in four new
patients with MOMO syndrome.
C. Passalacqua, M.
Garcia, L. Dueñas.
2762
F Pregnancy in autosomal recessive polycystic
kidney disease/congenital hepatic fib osis.
N. Banks, J.
Bryant, R. Fischer, M. Huizing, W. Gahl, M. Gunay-Aygun.
2763
W X-linked Joubert syndrome: Neuroimaging and
clinical features associated with a novel mutation in
OFD1
.
B. Hashemi, H. M. Branson, M. Moharir, G. Yoon.
2764
T Xq11.1-11.2 deletion involving
ARHGEF9
in a girl
with autism spectrum disorder.
G. Bhat, D. LaGrave, A.
N. Lamb, R. Matalon.
2765
F A four generation family with a novel
HRAS
mutation and predominantly ectodermal findings of
Costello syndrome.
D. Earl, S. Wallace.
2766
W Muenke syndrome: Phenotype variability of P250R
mutation in
FGFR3
gene.
T. Felix, T. W. Kowalski, J. Ferrari,
L. T. Souza, M. T. V. Sanseverino, M. V. Collares, V. S. Mattevi.