Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

American Journal of Medical Genetics, Part A

Volumn 167, Issue 11, 2015, Pages 2497-2502

  Bhoj, Elizabeth J ^a   Li, Dong ^a   Harr, Margaret H ^a   Tian, Lifeng ^a   Wang, Tiancheng ^a   Zhao, Yan ^a   Qiu, Haijun ^a   Kim, Cecilia ^a   Hoffman, Jodi D ^b   Hakonarson, Hakon ^a,c   Zackai, Elaine H ^a,c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b BOSTON MEDICAL CENTER   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Craniosynostosis hoffman type; Hypertelorism; Opitz G BBB syndrome; Sperm antigen with calponin homology and coiled coil domains; Teebi hypertelorism syndrome

Indexed keywords

MEMBRANE PROTEIN; SPERM ANTIGEN WITH CALPONIN HOMOLOGY AND COILED COIL 1L DOMAIN PROTEIN; UNCLASSIFIED DRUG; MIP1 PHOSPHOPROTEIN, HUMAN; PHOSPHOPROTEIN;

ADOLESCENT; ANXIETY; AORTA ROOT; ARTERY DILATATION; ARTICLE; AUTISM; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CLEFT FACE; CRANIOFACIAL SYNOSTOSIS; FACIOGENITAL DYSPLASIA; FAMILY HISTORY; FOOT MALFORMATION; GENE DELETION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAND MALFORMATION; HUMAN; HYPERTELORISM; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OPITZ SYNDROME; PANIC; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; PULMONARY HYPERTENSION; SCHOOL CHILD; SCROTUM DISORDER; SEQUENCE ANALYSIS; SPECC1L GENE; TEEBI HYPERTELORISM SYNDROME; TOOTH MALFORMATION; UMBILICAL HERNIA; DNA MUTATIONAL ANALYSIS; FACIES; FAMILY; GENETICS; INFANT; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACIES; FAMILY; HUMANS; HYPERTELORISM; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHOSPHOPROTEINS;

EID: 84947025020     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37217     Document Type: Article

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