Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome

American Journal of Medical Genetics

Volumn 138 A, Issue 3, 2005, Pages 272-277

  Rodríguez Criado, Germán ^a   Magano, Luis ^b   Segovia, Mabel ^c   Gurrieri, Fiorella ^d   Neri, Giovanni ^d   González Meneses, Antonio ^a   Gómez De Terreros, Ignacio ^a   Valdéz, Rita ^c   Gracia, Ricardo ^b   Lapunzina, Pablo ^b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c Centro Nacional de Genetica Medica de Buenos Aires   (Argentina)

^d CATHOLIC UNIVERSITY   (Italy)

Author keywords

Abnormal sella turcica; Bronze baby syndrome; Corpus callosum agenesis; Glypican 3; Hepatoblastoma; Multiple congenital anomalies; Overgrowth; Simpson Golabi Behmel syndrome(SGBS); Tumors; X linked

Indexed keywords

GLYPICAN; GLYPICAN 3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CANCER RISK; CASE REPORT; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; EXON; FACE MALFORMATION; FAILURE TO THRIVE; GENE MUTATION; HEPATOBLASTOMA; HETEROZYGOTE; HUMAN; INTRON; LIVER TUMOR; MACROSOMIA; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NEPHROBLASTOMA; NEWBORN; NEWBORN JAUNDICE; PRIORITY JOURNAL; SELLA TURCICA; SIMPSON GOLABI BEHMEL SYNDROME; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; ADULT; BASE SEQUENCE; CYTOGENETIC ANALYSIS; FACIES; FEMALE; FETAL MACROSOMIA; GLYPICANS; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; SEQUENCE DELETION; SYNDROME;

TURCICA;

EID: 25644435724     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30920     Document Type: Article

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