Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis

被引：3

作者：

Ittleman, Benjamin R. ^{[1
]}

Mckissick, Jasmine ^{[2
]}

Bosanko, Katherine A. ^{[3
]}

Ocal, Eylem ^{[4
]}

Golinko, Michael ^{[5
]}

Zarate, Yuri A. ^{[3
]}

机构：

[1] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Dept Pediat, Little Rock, AR 72205 USA

[2] Univ Arkansas Med Sci, Coll Med, Little Rock, AR 72205 USA

[3] Univ Arkansas Med Sci, Dept Pediat, Sect Genet & Metab, 1 Childrens Way,Slot 51222, Little Rock, AR 72202 USA

[4] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Dept Neurosurg, Little Rock, AR 72205 USA

[5] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Div Plast Surg, Little Rock, AR 72205 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 02期

关键词：

CARDIO-FACIAL SYNDROME; 22Q11.2; DELETION; CRITICAL REGION; PATIENT; COMPLICATIONS; MICRODELETION; PHENOTYPE; SPECTRUM;

D O I：

10.1002/ajmg.a.38532

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：487 / 491

页数：5

共 24 条

[1] A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003 [J].

Boulet, Sheree L. ;

Rasmussen, Sonja A. ;

Honein, Margaret A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (08) :984-991

[2] Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability [J].

Choucair, Nancy ;

Mignon-Ravix, Cecile ;

Cacciagli, Pierre ;

Abou Ghoch, Joelle ;

Fawaz, Ali ;

Megarbane, Andre ;

Villard, Laurent ;

Chouery, Eliane .

MOLECULAR CYTOGENETICS, 2015, 8

[3] Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2 [J].

Dworschak, G. C. ;

Cretolle, C. ;

Hilger, A. ;

Engels, H. ;

Korsch, E. ;

Reutter, H. ;

Ludwig, M. .

CLINICAL GENETICS, 2017, 91 (05) :661-671

[4]

Esparza J, 2008, NEUROCIRUGIA, V19, P509

[5]

Hauge XY, 2008, GENET MED, V10, P599, DOI 10.1097GIM.0b013e31817e2bde

[6]

Heuze Yann, 2014, Curr Genet Med Rep, V2, P135

[7] Genetic advances in craniosynostosis [J].

Lattanzi, Wanda ;

Barba, Marta ;

Di Pietro, Lorena ;

Boyadjiev, Simeon A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (05) :1406-1429

[8] Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences [J].

Magge, Suresh N. ;

Snyder, Kendall ;

Sajja, Aparna ;

DeFreitas, Tiffani A. ;

Hofherr, Sean E. ;

Broth, Richard E. ;

Keating, Robert F. ;

Rogers, Gary F. .

JOURNAL OF CRANIOFACIAL SURGERY, 2017, 28 (01) :14-16

[9] 20-YEAR EXPERIENCE WITH EARLY SURGERY FOR CRANIOSYNOSTOSIS .2. THE CRANIOFACIAL SYNOSTOSIS SYNDROMES AND PANSYNOSTOSIS - RESULTS AND UNSOLVED PROBLEMS [J].

MCCARTHY, JG ;

GLASBERG, SB ;

CUTTING, CB ;

EPSTEIN, FJ ;

GRAYSON, BH ;

RUFF, G ;

THORNE, CH ;

WISOFF, J ;

ZIDE, BM .

PLASTIC AND RECONSTRUCTIVE SURGERY, 1995, 96 (02) :284-295

[10] Craniosynostosis: Another feature of the 22q11.2 deletion syndrome [J].

McDonald-McGinn, DM ;

Gripp, KW ;

Kirschner, RE ;

Maisenbacher, MK ;

Hustead, V ;

Schauer, GM ;

Keppler-Noreuil, KM ;

Ciprero, KL ;

Pasquariello, P ;

LaRossa, D ;

Bartlett, SP ;

Whitaker, LA ;

Zackai, EH .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 136A (04) :358-362

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