P.R672C mutation of MYH3 gene in an Egyptian infant presented with freeman-sheldon syndrome

Indian Journal of Pediatrics

Volumn 78, Issue 1, 2011, Pages 103-105

  Al Haggar, Mohammad ^a   Yahia, Soheir ^a   Damjanovich, Kristy ^b   Ahmad, Nermin ^a   Hamada, Iman ^a   Bayrak Toydemir, Pinar ^b,c  

^a MANSOURA UNIVERSITY CHILDREN S HOSPITAL   (Egypt)

^b ARUP LABORATORIES   (United States)

^c UNIVERSITY OF UTAH   (United States)

Author keywords

Freeman Sheldon syndrome; Mutation analysis

Indexed keywords

ARGININE; CYTOSINE; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 3; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CAMPTODACTYLY; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CONFERENCE PAPER; EGYPT; EXON; FACE MALFORMATION; FAMILY HISTORY; FREEMAN SHELDON SYNDROME; GENE; GENE AMPLIFICATION; GENETIC ASSOCIATION; GENOME SIZE; HUMAN; JOINT CONTRACTURE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYH3 GENE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SKELETON MALFORMATION; SLEEP APNEA SYNDROME; SLEEP DISORDER; WHOLE BODY IMAGING;

CRANIOFACIAL DYSOSTOSIS; CYTOSKELETAL PROTEINS; EGYPT; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE;

EID: 78751628835     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-010-0230-y     Document Type: Conference Paper

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