Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C

American Journal of Medical Genetics, Part A

Volumn 167, Issue 7, 2015, Pages 1621-1626

  Al Qattan, Mohammad M ^a   Al Motairi, Muhammed I ^a   Al Balwi, Mohammed A ^b,c  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

Brachydactyly; CDMP1; GDF5

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 5; GDF5 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRACHYDACTYLY; BRACHYDACTYLY TYPE C; CASE REPORT; CONTROLLED STUDY; FINGER MALFORMATION; GDF5 GENE; GENE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HAND RADIOGRAPHY; HUMAN; HYPERPHALANGISM; INFANT; MISSENSE MUTATION; PRIORITY JOURNAL; SAUDI ARABIA; DNA SEQUENCE; FINGER; GENETICS; GENOTYPE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; RADIOGRAPHY;

BASE SEQUENCE; BRACHYDACTYLY; FINGERS; GENOTYPE; GROWTH DIFFERENTIATION FACTOR 5; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA;

EID: 84931399917     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37040     Document Type: Article

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