Novel SMAD4 mutation causing Myhre syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1835-1840

  Caputo, Viviana ^a   Bocchinfuso, Gianfranco ^b   Castori, Marco ^a   Traversa, Alice ^a,c   Pizzuti, Antonio ^a   Stella, Lorenzo ^b   Grammatico, Paola ^a   Tartaglia, Marco ^c  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

Mutation analysis; Myhre syndrome; SMAD4; Structural analyses; TGF pathway

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CAUSAL ATTRIBUTION; DARIER DISEASE; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; INFANT; JOINT STIFFNESS; KYPHOSIS; LORDOSIS; MALE; MICROTIA; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUTATIONAL ANALYSIS; MYHRE RUVALCABA SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REFLEX DISORDER; SMAD4 GENE; SPEECH DISORDER; SPEECH THERAPY; CHEMICAL STRUCTURE; CHEMISTRY; CODON; CRYPTORCHIDISM; DNA SEQUENCE; FACIES; GENETICS; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HYPERTROPHY; INTELLECTUAL DISABILITY; JOINT DISEASES; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PROTEIN CONFORMATION; PROTEIN MULTIMERIZATION; PROTEIN STABILITY;

CODON; SMAD4 PROTEIN;

CHILD, PRESCHOOL; CODON; CRYPTORCHIDISM; FACIES; GENETIC ASSOCIATION STUDIES; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPERTROPHY; INTELLECTUAL DISABILITY; JOINT DISEASES; MALE; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN MULTIMERIZATION; PROTEIN STABILITY; SEQUENCE ANALYSIS, DNA; SMAD4 PROTEIN;

EID: 84902540055     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36544     Document Type: Article

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