Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2588-2594

  Concolino, D ^a   Roversi, G ^b,c   Muzzi, G L ^a   Sestito, S ^a   Colombo, E A ^b   Volpi, L ^b   Larizza, L ^b   Strisciuglio, P ^d  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c NATIONAL CANCER INSTITUTE   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Congenital neutropenia; Genodermatosis; Poikiloderma

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLERICUZIO TYPE POIKILODERMA WITH NEUTROPENIA SYNDROME; CLINICAL FEATURE; ECHOGRAPHY; FEMALE; FRONTAL BOSSING; GENE MUTATION; HUMAN; HYPERKERATOSIS; HYPERPIGMENTATION; HYPERTELORISM; HYPOPIGMENTATION; INFANT; LEUKOPENIA; MALE; MIDFACE HYPOPLASIA; NEUTROPENIA; OPEN READING FRAME; PACHYONYCHIA; PHENOTYPE; POIKILODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNATHIA; RASH; ROTHMUND THOMSON SYNDROME; SCHOOL CHILD; SHORT STATURE; SIBLING; SKIN ATROPHY; SKIN BIOPSY; SKIN MANIFESTATION; SPLENOMEGALY; TELANGIECTASIA; TELECANTHUS; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; ONSET AGE; PEDIGREE; SKIN DISEASE; SKIN PIGMENTATION; SYNDROME;

SOLEIDAE;

C16ORF35 PROTEIN, HUMAN; NUCLEAR PROTEIN;

ABNORMALITIES, MULTIPLE; AGE OF ONSET; FEMALE; HUMANS; INFANT; MALE; MUTATION; NEUTROPENIA; NUCLEAR PROTEINS; OPEN READING FRAMES; PEDIGREE; PHENOTYPE; ROTHMUND-THOMSON SYNDROME; SIBLINGS; SKIN DISEASES; SKIN PIGMENTATION; SYNDROME;

EID: 78349244790     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33600     Document Type: Article

References (9)

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