Expanding the clinical and genetic spectra of NKX6-2 -related disorder-Reference-Cited by-同舟云学术

Expanding the clinical and genetic spectra of NKX6-2 -related disorder

Published:2018-04-14 Issue:5 Volume:93 Page:1087-1092
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Baldi C.¹,Bertoli-Avella A.M.¹,Al-Sannaa N.²,Alfadhel M.³,Al-Thihli K.⁴,Alameer S.⁵,Elmonairy A.A.⁶,Al Shamsi A.M.⁷,Abdelrahman H.A.⁸,Al-Gazali L.⁹^ORCID,Shawli A.⁵¹⁰,Al-Hakami F.¹⁰¹¹,Yavuz H.¹,Kandaswamy K.K.¹,Rolfs A.¹¹²,Brandau O.¹,Bauer P.¹^ORCID

Affiliation:

1. Centogene AG; Rostock Germany

2. John Hopkins Aramco Health Care, Pediatric Services; Dhahran Saudi Arabia

3. King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics; King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA); Riyadh Saudi Arabia

4. Department of Genetics; Sultan Qaboos University Hospital; Muscat Oman

5. King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics; King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA); Jeddah Saudi Arabia

6. Kuwait Medical Genetics Center; Kuwait

7. Department of Paediatrics; Tawam Hospital; Al-Ain United Arab Emirates

8. Department of Pathology, College of Medicine and Health Sciences; United Arab Emirates University Al Ain; Al-Ain United Arab Emirates

9. Department of Pediatrics, College of Medicine and Health Sciences; United Arab Emirates University Al Ain; United Arab Emirates

10. Molecular Medicine Section; King Saud Bin Abdulaziz University for Health Sciences; Jeddah Saudi Arabia

11. Molecular Medicine Section; King Abdulaziz Medical City-WR; Jeddah Saudi Arabia

12. Albrecht-Kossel-Institute for Neuroregeneration; Medical University Rostock; Rostock Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13221/fullpdf

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4. Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination;Chelban;Am J Hum Genet,2017

5. Expanding the genetic heterogeneity of intellectual disability;Anazi;Hum Genet,2017

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