Molecular diagnosis of a novel heterozygous 268C→T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis

Prenatal Diagnosis

Volumn 22, Issue 1, 2002, Pages 5-7

  Chen, Chih Ping ^a   Chern, Schu Rern ^a   Du, Shin Hua ^b   Wang, Wayseen ^b  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Holoprosencephaly; Missense mutation; Molecular analysis; TGIF; Ultrasound

Indexed keywords

TRANSFORMING GROWTH FACTOR;

ADULT; AGENESIS; ARTICLE; CASE REPORT; CRANIOFACIAL MALFORMATION; FEMALE; FETUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE; MALE; MAXILLA; MISSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; SECOND TRIMESTER PREGNANCY; SEQUENCE ANALYSIS; TGIF GENE; ULTRASOUND;

ADULT; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GESTATIONAL AGE; HETEROZYGOTE; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; INTRONS; MAXILLA; MUTATION; MUTATION, MISSENSE; PREGNANCY; PRENATAL DIAGNOSIS; REPRESSOR PROTEINS;

EID: 0036170640     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.202     Document Type: Article

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