Exome Analysis in Clinical Practice: Expanding the Phenotype of Bartsocas-Papas Syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1058-1063

  Gripp, Karen W ^a   Ennis, Sara ^a   Napoli, Joseph ^a  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

Ankyloblepharon ectodermal defects cleft lip palate syndrome; Autosomal recessive popliteal pterygium syndrome; Bartsocas Papas syndrome; Cleft lip palate; RIPK4

Indexed keywords

AEC SYNDROME; ANHIDROSIS; ARTICLE; BARTSOCAS PAPAS SYNDROME; CASE REPORT; CHILD; CLINICAL PRACTICE; CONGENITAL MALFORMATION; EXOME; FEMALE; GENETIC PROCEDURES; GENETIC VARIABILITY; HUMAN; KRT83 GENE; MUTATIONAL ANALYSIS; MUTATOR GENE; NAIL DYSPLASIA; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RIPK4 GENE; SCANTY HAIR; SEQUENCE ANALYSIS; TP63 GENE; WHOLE EXOME SEQUENCING;

CLEFT LIP; CLEFT PALATE; DIAGNOSIS, DIFFERENTIAL; ECTODERMAL DYSPLASIA; EXOME; EYE ABNORMALITIES; EYELIDS; FEMALE; HOMOZYGOTE; HUMANS; KNEE; MUTATION; PHENOTYPE; PREGNANCY; PROTEIN-SERINE-THREONINE KINASES; SYNDACTYLY;

EID: 84876795328     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35913     Document Type: Article

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