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

American Journal of Medical Genetics, Part A

Volumn 176, Issue 4, 2018, Pages 925-935

  Zarate, Yuri A ^a   Smith Hicks, Constance L ^b   Greene, Carol ^c   Abbott, Mary Alice ^d   Siu, Victoria M ^e   Calhoun, Amy R U L ^f   Pandya, Arti ^g   Li, Chumei ^h   Sellars, Elizabeth A ^a   Kaylor, Julie ⁱ   Bosanko, Katherine ^a   Kalsner, Louisa ^j   Basinger, Alice ^k   Slavotinek, Anne M ^l   Perry, Hazel ^l   Saenz, Margarita ^m   Szybowska, Marta ^h   Wilson, Louise C ⁿ   Kumar, Ajith ⁿ   Brain, Caroline ⁿ   Balasubramanian, Meena ^o   Dubbs, Holly ^p   Ortiz Gonzalez, Xilma R ^p   Zackai, Elaine ^p   Stein, Quinn ^q   Powell, Cynthia M ^g   Schrier Vergano, Samantha ^r   Britt, Allison ^s   Sun, Angela ^t,u   Smith, Wendy ^v   Bebin, E Martina ^w   Picker, Jonathan ^x   Kirby, Amelia ^y   Pinz, Hailey ^y   Bombei, Hannah ^f   Mahida, Sonal ^b   Cohen, Julie S ^b   Fatemi, Ali ^b   Vernon, Hilary J ^b   McClellan, Rebecca ^b   Fleming, Leah R ^z   Knyszek, Brittney ^z   Steinraths, Michelle ^aa   Velasco Gonzalez, Cruz ^a   Beck, Anita E ^t,u   Golden Grant, Katie L ^u   Egense, Alena ^c   Parikh, Aditi ^ab,ac,ad   Raimondi, Chantalle ^ae   Angle, Brad ^ae   Allen, William ^af   Schott, Suzanna ^af   Algrabli, Adi ^ag   Robin, Nathaniel H ^ah   Ray, Joseph W ^s   Everman, David B ^ai   Gambello, Michael J ^aj   Chung, Wendy K ^ak   more..

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^d BAYSTATE MEDICAL CENTER   (United States)

^e UNIVERSITY OF WESTERN ONTARIO   (Canada)

^f UNIVERSITY OF IOWA   (United States)

^g UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^h MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

ⁱ Informed DNA   (United States)

^j UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^k Department of Metabolic Genetics   (United States)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m CHILDREN S HOSPITAL COLORADO   (United States)

ⁿ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^o SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^p CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^q Sanford Children's Hospital   (United States)

^r CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^s University of Texas Medical Branch School of Medicine   (United States)

^t UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^u SEATTLE CHILDREN S HOSPITAL   (United States)

^v Barbara Bush Children's Hospital   (United States)

^w The University of Alabama at Birmingham   (United States)

^x BOSTON CHILDREN S HOSPITAL   (United States)

^y SSM Health Cardinal Glennon Children's Hospital at SLU   (United States)

^z St Luke's Children's Hospital   (United States)

^aa UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^ab MEDICAL COLLEGE OF OHIO   (United States)

^ac UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^ad CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ae ADVOCATE CHILDREN S HOSPITAL   (United States)

^af Fullerton Genetics Center   (United States)

^ag Mercedes Benz rDNA   (United States)

^ah UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^ai GREENWOOD GENETIC CENTER   (United States)

^aj EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ak Och Spine at New York Presbyterian Hospitals   (United States)

more..

Author keywords

2q33.1; facial recognition technology; genotype phenotype correlation; natural history; SATB; SATB2 associated syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME ANALYSIS; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CROWDING (TOOTH); DEVELOPMENTAL DELAY; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; GENE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOTHYROIDISM; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; MACRODONTIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SANGER SEQUENCING; SATB2 ASSOCIATED SYNDROME; SATB2 GENE; SKELETON MALFORMATION; SPEECH DISORDER; TOOTH DISEASE; VISUAL DISORDER; FACIES; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INHERITANCE; MULTIPLE MALFORMATION SYNDROME; PRESCHOOL CHILD; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME; YOUNG ADULT;

MATRIX ATTACHMENT REGION BINDING PROTEIN; SATB2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INHERITANCE PATTERNS; MALE; MATRIX ATTACHMENT REGION BINDING PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 85041920931     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38630     Document Type: Article

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