A novel frameshift mutation in TWIST2 gene causing Setleis syndrome

Indian Journal of Pediatrics

Volumn 81, Issue 3, 2014, Pages 302-304

  Girisha, Katta Mohan ^a   Bidchol, Abdul Mueed ^a   Sarpangala, Murali Keshava ^b   Satyamoorthy, Kapaettu ^c  

^a KASTURBA MEDICAL COLLEGE   (India)

^b KASTURBA MEDICAL COLLEGE   (India)

^c MANIPAL SCHOOL OF LIFE SCIENCES   (India)

Author keywords

Aplasia cutis; Frameshift mutation; Setleis syndrome; Temporal scars; TWIST2; Umbilical hernia

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR TWIST; TRANSCRIPTION FACTOR TWIST 2; UNCLASSIFIED DRUG; REPRESSOR PROTEIN; TWIST2 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILDHOOD DISEASE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; EYEBROW; EYELASH; FACE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GYNECOLOGIC DISEASE; HUMAN; HYPOPIGMENTATION; INFANT; LOWER LIP; MANDIBLE HYPOPLASIA; MATERNAL HYPERTENSION; NOSE; PALPEBRAL FISSURE; RARE DISEASE; SCAR; SETLEIS SYNDROME; SKIN APLASIA; STOP CODON; UMBILICAL HERNIA; WRINKLE; GENETICS; GOLTZ SYNDROME; SKIN DISEASE;

FEMALE; FOCAL DERMAL HYPOPLASIA; FRAMESHIFT MUTATION; HUMANS; INFANT; REPRESSOR PROTEINS; SKIN DISEASES; TWIST TRANSCRIPTION FACTOR;

EID: 84898442035     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-013-1253-y     Document Type: Article

References (6)

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