Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15→pter

Genetic Counseling

Volumn 18, Issue 3, 2007, Pages 295-301

  Touliatou, V ^a   Mavrou, A ^a   Kolialexi, A ^a   Kanavakis, E ^a   Kitsiou Tzeli, Sophia ^a  

^a UNIVERSITY OF ATHENS   (Greece)

Author keywords

Craniosynostosis; Monosomy 7p; Saethre Chotzen syndrome; TWIST gene

Indexed keywords

TRANSCRIPTION FACTOR TWIST;

ACROCEPHALOSYNDACTYLY; ANAMNESIS; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CELL MATURATION; CHROMOSOMAL LOCALIZATION; CHROMOSOME 7P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME IDENTIFICATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETIC TRANSCRIPTION; HUMAN; MALE; OSTEOBLAST; PARTIAL MONOSOMY; PRESCHOOL CHILD; PROMOTER REGION;

ACROCEPHALOSYNDACTYLIA; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; DEVELOPMENTAL DISABILITIES; HUMANS; KARYOTYPING; MALE;

EID: 35648994370     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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