A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 97, Issue 7, 2013, Pages 456-462

  Akawi, Nadia ^a   Ali, Bassam ^a   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

19p13; Exome sequencing; Homozygosity mapping; Linkage; Neonatal; Progeria; Progeroid syndrome; Wiedemann Rautenstrauch syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 19P; CLINICAL FEATURE; CONSANGUINITY; EXOME; FAILURE TO THRIVE; FEMALE; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; INTRAUTERINE GROWTH RETARDATION; MALE; MUSCLE HYPOTONIA; NEWBORN PERIOD; PRIORITY JOURNAL; PROGEROID SYNDROME; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM;

19P13; EXOME SEQUENCING; HOMOZYGOSITY MAPPING; LINKAGE; NEONATAL; PROGERIA; PROGEROID SYNDROME; WIEDEMANN-RAUTENSTRAUCH SYNDROME;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY; FEMALE; FETAL GROWTH RETARDATION; FOLLOW-UP STUDIES; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PROGERIA; SURVIVAL RATE;

EID: 84880702437     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23136     Document Type: Article

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