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Items: 6

1.
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Siham Chafai Elalaoui, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe, Abdelaziz Sefiani
Afr Health Sci. 2021 Jun; 21(2): 960–967. doi: 10.4314/ahs.v21i2.58
PMCID:
PMC8568211
ArticlePDF–379K
2.
Turner syndrome in Diverse Populations
Paul Kruszka, Yonit A. Addissie, Cedrik Tekendo-Ngongang, Kelly L. Jones, Sarah K. Savage, Neerja Gupta, Nirmala D. Sirisena, Teresa E. Aravena Cerda, Sheela Nampoothiri, Katta M. Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Milagros M. Duenas Roque, Meow-Keong Thong, Angélica Moresco, María Gabriela Obregon, Tung Yuet Ling, Gary TK Mok, Nicole Fleischer, Godfrey Rwegerera, María Beatriz de Herreros, Jonathan Watts, Karen Fieggen, Dalia Farouk, Neveen A. Ashaat, Brian H.Y. Chung, Eden Badoe, Sultana MH Faradz, Mona El-Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Antonio Richieri-Costa, Maximilian Muenke
Am J Med Genet A. Author manuscript; available in PMC 2021 May 24.
Published in final edited form as: Am J Med Genet A. 2020 Feb; 182(2): 303–313. Published online 2019 Dec 19. doi: 10.1002/ajmg.a.61461
PMCID:
PMC8141514
ArticlePDF–943K
3.
A New Frontonasal Dysplasia Syndrome Associated with Deletion of the SIX2 Gene
Robert B. Hufnagel, Sarah L. Zimmerman, Laura A. Krueger, Patricia L. Bender, Zubair M. Ahmed, Howard M. Saal
Am J Med Genet A. Author manuscript; available in PMC 2021 May 10.
Published in final edited form as: Am J Med Genet A. 2016 Feb; 170A(2): 487–491. Published online 2015 Nov 18. doi: 10.1002/ajmg.a.37441
PMCID:
PMC8108007
ArticlePDF–646K
4.
REOPERATION FOR INTRACRANIAL HYPERTENSION IN TWIST1 CONFIRMED SAETHRE-CHOTZEN SYNDROME: A 15 YEAR REVIEW
Roger H Woods, Ehtesham Ul-Haq, Andrew OM Wilkie, Jayaratnam Jayamohan, Peter G Richards, David Johnson, Tracy Lester, Steven A Wall
Plast Reconstr Surg. Author manuscript; available in PMC 2009 Dec 1.
Published in final edited form as: Plast Reconstr Surg. 2009 Jun; 123(6): 1801–1810. doi: 10.1097/PRS.0b013e3181a3f391
PMCID:
PMC2719244
ArticlePDF–1.5M
5.
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
W A Paznekas, M L Cunningham, T D Howard, B R Korf, M H Lipson, A W Grix, M Feingold, R Goldberg, Z Borochowitz, K Aleck, J Mulliken, M Yin, E W Jabs
Am J Hum Genet. 1998 Jun; 62(6): 1370–1380. doi: 10.1086/301855
PMCID:
PMC1377134
Abstract
6.
Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.
A Schinzel, C P Braegger, L Brecevic, F Dutly, F Binkert
J Med Genet. 1997 Aug; 34(8): 692–695. doi: 10.1136/jmg.34.8.692
PMCID:
PMC1051037
SummaryPage BrowsePDF–675K

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