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1007W Consanguinity as a means to identify
pathogenic recessive mutations.
P. Makrythanasis, M.
Nelis, M. Guipponi, F. Béna, S. Gimelli, S. Temtamy, A.
Megarbane, M. Aglan, M. Zaki, S. Fokstuen, L.
Gwanmesia, A. Masri, S. Psoni, S. Kitsiou, H. Frissyra, E.
Kanavakis, N. Al-Allawi, N. Akarsu, S. AlHait, S. Al-
Arrayed, I. Al Rashdi, H. Hamamy, S. E. Antonarakis.
1008W Transient neonatal diabetes: Case report of a
long term follow-up.
M. C. Moreira, C. R. D. C. Quaio, I.
Gomy, A. Ino, M. E. Ceccon, T. Della Manna, A. V.
Morgante, D. R. Bertola, C. A. Kim.
1009W Fetal akinesia in metatropic dysplasia:
Combination between chondrodysplasia and
neuropathy?
S. Unger, E. Lausch, F. Stanzial, G. Gillesen-
Kaesbach, C. Di Stefano, E. Bertini, C. Dionisi-Vici, B.
Nilius, B. Zabel, A. Superti-Furga.
1010W A novel SHH missense mutation causing
variable phenotypes in familial holoprosencephaly.
D.
Wang, M. Huggins, P. Mohide, C. Li.
1011W Clinical and molecular characteristics of
Noonan syndrome among Arabs.
D. M. AlJeaid, J. Y. Al-
Aama.
1012W Autoimmune diseases and multiple
autoantibodies in a cohort of 43 molecularly proven
RASopathy patients.
D. R. Bertola, C. R. D. C. Quaio, J.
F. Carvalho, C. A. A. Silva, C. Bueno, A. S. Brasil, A. C.
Pereira, A. L. L. Jorge, A. C. Malaquias, C. A. Kim.
1013W Atypical 7q11.23 deletion in a boy with the
facies and behavioral phenotype of Williams syndrome
but typical overall cognitive ability: Phenotype-
genotype correlation.
R. D. Clark, B. Haas, A. L. Reiss.
1014W POLR1D and POLR1C sequencing in a series of
33 patients without TCOF1 mutations and study of
their profile expression during human development.
C.
Collet, M. Vincent, S. Thomas, S. Marlin, E. Sanchez, A.
Harroche, K. Dahan, T. Attie, C. Herlin, Y. Chabbi, G.
Captier, C. Blanchet, A. Ermakov, M. Bigorre, M. Mondain,
M. Willems, B. Doray, P. Sarda, F. Djouad, D. Geneviève.
1015W A further case of Coffin-Siris syndrome with
additional findings: Acanthosis nigricans and obesity.
B. Durmaz, E. Karaca, O. Cogulu, F. Ozkinay.
1016W Richieri-Costa-Pereira syndrome.
T. M. Felix, I.
G. Mazzucco, G. Carvalho, J. C. L. Leite, L. Z. Bonilha, M.
V. Collares.
1017W Clinical review of 21 patients with chromosome
22q11.2 deletion syndrome.
J. Garcia-Sagredo, J.
Lopez-Ribera, P. Cabello, E. Garcia-Galloway, C. Villalon,
J. Cabrejas, M. Talavera, M. T. Ferro.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1018W A seven years follow-up of a new case of
Ehlers Danlos syndrome type VIIB: Major problems
represented by bilateral, extremely severe, hip
dislocation.
M. Giovannucci Uzielli, C. Giunta, G.
Scarselli, N. Dayan, E. Lapi, L. Di Medio.
1019W The Floating-Harbor syndrome: Report of the
first case series in South America.
I. Gomy, C. R. D.
Quaio, D. R. Bertola, C. A. Kim.
1020W Autosomal dominant natal teeth with selectiv
tooth agenesis.
J. Graham, V. Funari, O. Klein, K. Seid
P. Kantaputra, K. Taylor.
1021W Congenital neutropenia with retinopathy, a n
phenotype without mental retardation caused by
VPS13B mutations.
L. Gueneau, L. Jego, P. Sarda, C.
Hamel, B. Aral, E. Lopez, N. Gigot, M. C. Lavigne, A.
Donzel, P. Callier, A. Masurel-Paulet, J. R. Teyssier, N.
Droin, S. El Chehadeh, L. Faivre, C. Thauvin.
1022W Novel
GJA1
mutation in a patient with oculo-
dento-digital dysplasia and evolving basal ganglia
abnormalities.
E. M. Honey, E. J. van Rensburg.
1023W 5q31.3 Microdeletion syndrome is a clinically
discernible new syndrome characterized by severe
neonatal hypotonia, feeding difficulties, respiratory
distress, and severe developmental delay.
K. Hosoki,
Ohta, J. Natsume, S. Imai, A. Okumura, T. Matsui, N.
Harada, F. Scaglia, C. A. Bacino, N. Niikawa, S. Saitoh.
1024W A novel autosomal dominant Pierre-Robin
microtia type I syndrome.
A. Hunter, K. Boykott, N. R
1025W A de novo 10.6 Mb tandem duplication of
17q11.2-q12 in a 1-year-old boy: Expanding the
phenotype.
S. Jamal, R. Basran, T. Maher, Y. Zou, X.
Huang, J. Milunsky.
1026W Phenotypic features of the 14q deletion
syndrome in balanced translocation carrier family
members.
N. J. B. Kapalanga, D. Wong, A. C. Gandy.
1027W Aicardi Goutiere syndrome — First molecular
confirmed case in Malaysia.
W. T. Keng, G. I. Rice, H.
Gornall, Y. J. Crow, V. Ganesan, R. Ariffin.
1028W A clinical description of an adult patient with
Wolf-Hirschhorn syndrome caused by the unbalance
translocation t(4;8)(p16.1;p23.1).
J. Liu, M. Thomas.
1029W Delineation of the interstitial 6q25
microdeletion syndrome: Refinement of the critical
causative region.
M. Michelson-Kerman, C. Vinkler, I.
Nezer, M. Yanoov-Sharav, T. Lerman-Sagie, D. Lev.
1030W Toriello-Carey syndrome: First Brazilian case
with unusual manifestation phenotype.
M. P.
Migliavacca, T. A. Zanolla, N. L. M. Sobreira, A. B. A.
Perez.