Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

American Journal of Medical Genetics, Part A

Volumn 143, Issue 8, 2007, Pages 875-880

  Tekin, Mustafa ^a,b   Cengiz, Filiz Başak ^a   Ayberkin, Eda ^a   Kendirli, Tanil ^a   Fitoz, Suat ^a   Tutar, Ercan ^a   Çiftçi, Ergin ^a   Conba, Atakan ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b Birlik Mahallesi   (Turkey)

Author keywords

Cysteine residue; Emphysema; Fibrillin 1; Mosaicism; Neonatal Marfan syndrome

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CAUSAL ATTRIBUTION; CLINICAL FEATURE; CONTROLLED STUDY; FAMILIAL DISEASE; FBN1 GENE; GENE; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; INFANT; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MOSAICISM; NEWBORN; NEWBORN DEATH; PRIORITY JOURNAL;

FAMILY HEALTH; FATAL OUTCOME; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOSAICISM; MUTATION, MISSENSE;

EID: 34147098091     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31660     Document Type: Article

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