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American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2053-2056

Homozygous nonsense mutation in WNT10B and sporadic Split-Hand/Foot Malformation (SHFM) with autosomal recessive inheritance

(3) Blattner, Ariane a Huber, Andreas R a Röthlisberger, Benno a

a CANTONAL HOSPITAL AARAU (Switzerland)

Author keywords

SHFM6; Split hand foot malformation (SHFM); WNT10B

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONSANGUINITY; ECTRODACTYLY; FAMILIAL DISEASE; FEMALE; GENE; GENE DUPLICATION; GENE LOCUS; GENETIC COUNSELING; GENETIC RISK; HOMOZYGOSITY; HUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROGENY; RECURRENCE RISK; WNT10B GENE;

BASE SEQUENCE; CODON, NONSENSE; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; PREGNANCY; PROTO-ONCOGENE PROTEINS; WNT PROTEINS;

EID: 77955298387 PISSN: 15524825 EISSN: 15524833 Source Type: Journal
DOI: 10.1002/ajmg.a.33504 Document Type: Article

Times cited : (38)

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