WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2917-2924

  Bacino, Carlos A ^a,b   Dhar, Shweta U ^a   Brunetti Pierri, Nicola ^c,d   Lee, Brendan ^a,e   Bonnen, Penelope E ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Diagnostics; Exome sequencing and recessive disorders; Liver disease; Sensenbrenner syndrome; Short rib polydactyly

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CAVALLAZZI SYNDROME; CHILD DEATH; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FAMILY STUDY; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INFANT; LIVER FAILURE; LIVER FIBROSIS; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE; SIBLING; THORAX MALFORMATION; WDR35 GENE;

AMINO ACID SEQUENCE; BASE SEQUENCE; BONE AND BONES; CRANIOSYNOSTOSES; ECTODERMAL DYSPLASIA; EXOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEINS; SIBLINGS;

EID: 84867884100     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35608     Document Type: Article

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