Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation

被引：15

作者：

Albrecht, B

Liebers, M

Kohlhase, J

机构：

[1] Univ Gottingen, Inst Humangenet, D-37073 Gottingen, Germany

[2] Univ Essen Gesamthsch Klinikum, Inst Humangenet, D-4300 Essen, Germany

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 125A卷 / 01期

关键词：

D O I：

10.1002/ajmg.a.20484

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：102 / 104

页数：3

共 8 条

[1] A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype [J].

Engels, S ;

Kohlhase, J ;

McGaughran, J .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (06) :458-460

[2] Molecular analysis of SALL1 mutations in Townes-Brocks syndrome [J].

Kohlhase, J ;

Taschner, PEM ;

Burfeind, P ;

Pasche, B ;

Newman, B ;

Blanck, C ;

Breuning, MH ;

ten Kate, LP ;

Maaswinkel-Mooy, P ;

Mitulla, B ;

Seidel, J ;

Kirkpatrick, SJ ;

Pauli, RM ;

Wargowski, DS ;

Devriendt, K ;

Proesmans, W ;

Gabrielli, O ;

Coppa, GV ;

Wesby-van Swaay, E ;

Trembath, RC ;

Schinzel, AA ;

Reardon, W ;

Seemanova, E ;

Engel, W .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) :435-445

[3] Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome [J].

Kohlhase, J ;

Wischermann, A ;

Reichenbach, H ;

Froster, U ;

Engel, W .

NATURE GENETICS, 1998, 18 (01) :81-83

[4]

Kohlhase J, 2000, HUM MUTAT, V16, P460, DOI 10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO

[5]

2-4

[6]

Marlin S, 1999, HUM MUTAT, V14, P377, DOI 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.3.CO

[7]

2-1

[8]

Powell CM, 1999, J MED GENET, V36, P89

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