Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome-Reference-Cited by-同舟云学术

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome

Published:2018-02-13 Issue:4 Volume:176 Page:925-935
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Zarate Yuri A.¹^ORCID,Smith‐Hicks Constance L.²^ORCID,Greene Carol³,Abbott Mary‐Alice⁴,Siu Victoria M.⁵,Calhoun Amy R. U. L.⁶,Pandya Arti⁷,Li Chumei⁸^ORCID,Sellars Elizabeth A.¹,Kaylor Julie⁹,Bosanko Katherine¹,Kalsner Louisa¹⁰,Basinger Alice¹¹,Slavotinek Anne M.¹²,Perry Hazel¹²,Saenz Margarita¹³,Szybowska Marta⁸,Wilson Louise C.¹⁴,Kumar Ajith¹⁴,Brain Caroline¹⁵,Balasubramanian Meena¹⁶^ORCID,Dubbs Holly¹⁷,Ortiz‐Gonzalez Xilma R.¹⁷,Zackai Elaine¹⁷,Stein Quinn¹⁸,Powell Cynthia M.⁷,Schrier Vergano Samantha¹⁹^ORCID,Britt Allison²⁰,Sun Angela²¹²²,Smith Wendy²³,Bebin E. Martina²⁴,Picker Jonathan²⁵,Kirby Amelia²⁶,Pinz Hailey²⁶,Bombei Hannah⁶,Mahida Sonal²,Cohen Julie S.²,Fatemi Ali²,Vernon Hilary J.²,McClellan Rebecca²,Fleming Leah R.²⁷,Knyszek Brittney²⁷,Steinraths Michelle²⁸,Velasco Gonzalez Cruz²⁹,Beck Anita E.²¹²²,Golden‐Grant Katie L.²²,Egense Alena³,Parikh Aditi³⁰³¹³²,Raimondi Chantalle³³,Angle Brad³³,Allen William³⁴,Schott Suzanna³⁴,Algrabli Adi³⁵,Robin Nathaniel H.³⁶,Ray Joseph W.²⁰,Everman David B.³⁷^ORCID,Gambello Michael J.³⁸,Chung Wendy K.³⁹

Affiliation:

1. Section of Genetics and MetabolismUniversity of Arkansas for Medical SciencesLittle RockArkansas

2. Division of Neurogenetics, Department of NeurologyKennedy Krieger Institute and Johns Hopkins University School of MedicineBaltimoreMaryland

3. Department of PediatricsUniversity of Maryland BaltimoreBaltimoreMaryland

4. Department of PediatricsBaystate Medical CenterSpringfieldMassachusetts

5. Division of Medical GeneticsDepartment of PediatricsUniversity of Western OntarioLondonOntarioCanada

6. Division of Medical GeneticsDepartment of Pediatrics, University of IowaIowa CityIowa

7. Department of PediatricsDivision of Genetics and MetabolismUniversity of North Carolina at Chapel HillChapel HillNorth Carolina

8. Clinical Genetics ProgramMcMaster University Medical CenterHamiltonOntarioCanada

9. InformedDNASt. PetersburgFlorida

10. Departments of Neurology and PediatricsConnecticut Children's Medical Center and University of Connecticut Health CenterFarmingtonConnecticut

11. Cook Children's Physician NetworkFort WorthTexas

12. Division of GeneticsDepartment of PediatricsUniversity of California San FranciscoSan FranciscoCalifornia

13. Children's Hospital ColoradoAuroraColorado

14. Department of GeneticsGreat Ormond Street for Children NHS Foundation TrustLondonUK

15. Department of EndocrinologyGreat Ormond Street for Children NHS Foundation TrustLondonUK

16. Sheffield Clinical Genetics ServiceSheffield Children's NHS Foundation TrustSheffieldUK

17. Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania

18. Divisions of Pediatric Neurology and GeneticsSanford Children's Specialty ClinicSanford Children's HospitalSioux FallsSouth Dakota

19. Division of Medical Genetics and MetabolismChildren's Hospital of The King's DaughtersNorfolkVirginia

20. Division of Medical GeneticsDepartment of PediatricsUniversity of Texas Medical BranchGalvestonTexas

21. Division of Genetic MedicineDepartment of PediatricsUniversity of WashingtonSeattleWashington

22. Seattle Children's HospitalSeattleWashington

23. Department of PediatricsThe Barbara Bush Children's HospitalMaine Medical CenterPortlandMaine

24. Department of NeurologyUniversity of Alabama at BirminghamBirminghamAlabama

25. Boston Children's HospitalBostonMassachusetts

26. Division of Medical GeneticsSSM Health Cardinal Glennon Children's HospitalSaint LouisMissouri

27. Clinical Genetics and GenomicsSt. Luke's Children's HospitalBoiseIdaho

28. Department of Medical GeneticsUniversity of British ColumbiaVancouverBritish ColumbiaCanada

29. Biostatistics ProgramDepartment of PediatricsUniversity of Arkansas for Medical SciencesLittle RockArkansas

30. University of Toledo Department of PediatricsToledoOhio

31. University Hospitals Cleveland Medical CenterClevelandOhio

32. Department of Genetics and Genome Sciences Case Western Reserve University School of MedicineClevelandOhio

33. Advocate Children's HospitalPark RidgeIllinois

34. Fullerton Genetics CenterAshevilleNorth Carolina

35. FDNA, Inc.BostonMassachusetts

36. University of Alabama at BirminghamBirminghamAlabama

37. Greenwood Genetic CenterGreenwoodSouth Carolina

38. Emory University School of MedicineAtlantaGeorgia

39. Department of Pediatrics and MedicineColumbia UniversityNew YorkNew York

Funder

Simons Foundation and the JPB Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38630

Reference25 articles.

1. Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

2. Clinical and molecular consequences of disease-associated de novo mutations in SATB2

3. De novo missense variants inHECW2are associated with neurodevelopmental delay and hypotonia

4. Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exonSATB2frameshift mutation

5. Satb2 Haploinsufficiency Phenocopies 2q32-q33 Deletions, whereas Loss Suggests a Fundamental Role in the Coordination of Jaw Development

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