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Volumn 39, Issue 8, 2007, Pages 963-965
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Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
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Douglas, Jenny
a
Cilliers, Deirdre
a
Coleman, Kim
a
Tatton Brown, Katrina
a,b
Barker, Karen
a
Bernhard, Brigitte
c
Burn, John
c
Huson, Susan
d
Josifova, Dragana
e
Lacombe, D
k
Malik, Mohsin
g
Mansour, Sahar
b
Reid, Evan
h
Cormier Daire, Valerie
i
Cole, Trevor
j
Addor, M
k
Al Swaid, A
k
Amiel, J
k
Andries, S
k
Archer, H
k
Barnicoat, A
k
Barrow, M
k
Barwell, J
k
Baujat, G
k
Becker, K
k
Berg, J
k
Bernhard, B
k
Bhat, M
k
Bitner, M
k
Blair, E
k
Brady, A
k
Brueton, L
k
Cavani, S
k
Cecconi,
k
Chandler, K
k
Christensen, C
k
Clarke, A
k
Clayton Smith, J
k
Cole, T
k
Colleaux, L
k
Colley, A
k
Collins, A
k
Cormier Daire, V
k
Danda, S
k
Davies, S
k
Day, R
k
Magali, D R
k
Dennis, N
k
Dobbie, A
k
Edery, P
k
Elmslie, F
k
Faravelli, F
k
Firth, H
k
Fischetto, R
k
Fitzpatrick, D
k
Forzano, F
k
Foulds, N
k
Franklin, J
k
Fryer, A
k
Garcia, S
k
Gardiner, C
k
Garrett, C
k
Gener, B
k
Gibbons, R
k
Gillerot, Y
k
Gillessen Kaesbach, G
k
Goudie, D
k
Grasso, M
k
Henderson, A
k
Hirst, J
k
Hodgson, S
k
Holder, S
k
Homfrey, T
k
Hughes, H
k
Kerr, B
k
Kumar, A
k
Kumar, D
k
Lam, W
k
Le Merrer, M
k
Leonard, N
k
Liebelt, J
k
Lunt, P
k
Lynch, S
k
Lyonnet, S
k
Magee, A
k
Malacarne, M
k
Mansour, S
k
McEntagart, M
k
Majore, S
k
McKee, S
k
McKeown, C
k
Meinecke, P
k
Metcalfe, K
k
Milani, D
k
Mohammad, S
k
Munnich, A
k
Murray, A
k
Nemeth, A
k
Neri, G
k
Odent, S
k
Park, S
k
Patton, M
k
Penny, E
k
Pilz, D
k
Plecko, B
k
Pollitt, C
k
Price, S
k
Quarrell, O
k
Raas Rothschild, A
k
Raith, W
k
Rankin, J
k
Raymond, L
k
Reardon, W
k
Reid, E
k
Rosser, E
k
Ruddy, D
k
Saggar Malik, A
k
Santos, H
k
Scarano, G
k
Schaeffer, G B
k
Schulze, A
k
Selicorni, A
k
Shaw, A
k
Silengo, M
k
Smithson, S
k
Splitt, M
k
Stewart, F
k
Stewart, H
k
Suri, M
k
Sweeney, E
k
Tatton Brown, K
k
Temple, I K
k
Thompson, E
k
Tischkowitz, M
k
Tolmie, J
k
Turkmen, S
k
Turnpenny, P
k
Van Maldergem, L
k
Vasudevan, P
k
Vaz, I
k
Waggoner, D
k
Verellen, C
k
Viot, G
k
Wakeling, E
k
Weaver, D
k
White, K
k
Wilson, L
k
Zack, P
k
Zampino, G
k
Zankl, A
k
Rahman, Nazneen
a,k
more..
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Author keywords
[No Author keywords available]
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Indexed keywords
ARTICLE;
CLINICAL ARTICLE;
CLINICAL FEATURE;
FACE DYSMORPHIA;
FEMALE;
GENE;
GENE DELETION;
GENE IDENTIFICATION;
GENE MUTATION;
GROWTH DISORDER;
HUMAN;
LEARNING DISORDER;
MALE;
MORPHOLOGICAL TRAIT;
MULTIGENE FAMILY;
NEUROFIBROMATOSIS;
NUCLEOTIDE SEQUENCE;
PHENOTYPE;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
RNF135 GENE;
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EID: 34547533520
PISSN: 10614036
EISSN: 15461718
Source Type: Journal
DOI: 10.1038/ng2083
Document Type: Article
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