A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 599-604

  Eyaid, Wafaa ^a   Al Qattan, Mohammad M ^b   Al Abdulkareem, Ibrahim ^a,c   Fetaini, Nouf ^a   Al Balwi, Mohammed ^a,c  

^a KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

Al Awadi syndrome; Fuhrmann syndrome; Limb pelvis hypoplasia aplasia syndrome; Palmer duplication syndrome; Raas Rothschild syndrome; Rudimentary uterus; Schinzel phocomelia syndrome; Tetra amelia; WNT7A

Indexed keywords

GLYCINE; SERINE; WNT7A PROTEIN;

ADOLESCENT; ADULT; AL AWADI RAAS ROTHSCHILD SCHINZEL SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; DISEASE ASSOCIATION; EXON; FAMILY STUDY; FEMALE; FINGER MALFORMATION; FUHRMANN SYNDROME; GENETIC CONSERVATION; GENETIC SUSCEPTIBILITY; HOMOZYGOSITY; HORSESHOE KIDNEY; HUMAN; INFANT; LIMB MALFORMATION; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PELVIC DISEASE; PELVIC DYSPLASIA; PHENOTYPE; PHOCOMELIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SAUDI ARABIA; SCHOOL CHILD; UROGENITAL TRACT MALFORMATION;

AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; ECTROMELIA; FAMILY; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SAUDI ARABIA; WNT PROTEINS;

TETRA;

EID: 79951965219     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33717     Document Type: Article

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