ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

Human molecular genetics

Volumn 23, Issue 24, 2014, Pages 6584-6593

  Patel, Nisha ^a   Smith, Laura L ^b   Faqeih, Eissa ^b   Mohamed, Jawahir ^a   Gupta, Vandana A ^a   Alkuraya, Fowzan S ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLE PROTEIN; NUCLEAR PROTEIN; ZBTB42 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ANIMAL; ARTHROGRYPOSIS; CONSANGUINITY; EXOME; FEMALE; GENE SILENCING; GENETIC COMPLEMENTATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HUMAN; INNERVATION; MALE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROMUSCULAR JUNCTION; NEWBORN; PATHOLOGY; PEDIGREE; SAUDI ARABIA; SKELETAL MUSCLE; STILLBIRTH; TRANSGENIC ANIMAL; ZEBRA FISH;

AMINO ACID SEQUENCE; ANIMALS; ANIMALS, GENETICALLY MODIFIED; ARTHROGRYPOSIS; CONSANGUINITY; EXOME; FEMALE; GENE KNOCKDOWN TECHNIQUES; GENETIC COMPLEMENTATION TEST; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION, MISSENSE; NEUROMUSCULAR JUNCTION; NUCLEAR PROTEINS; PEDIGREE; SAUDI ARABIA; STILLBIRTH; ZEBRAFISH;

EID: 84971546568     PISSN: None     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu384     Document Type: Article

References (0)