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BibTeX
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, 2010-10, Vol.152A (10), p.2588-2594
Concolino, D.
Roversi, G.
Muzzi, G.L.
Sestito, S.
Colombo, E.A.
Volpi, L.
Larizza, L.
Strisciuglio, P.
2010
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Concolino, D.
Roversi, G.
Muzzi, G.L.
Sestito, S.
Colombo, E.A.
Volpi, L.
Larizza, L.
Strisciuglio, P.
Titel
Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype
Ist Teil von
American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2588-2594
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2010
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
We report on three sibs who have autosomal recessive Clericuzio‐type poikiloderma neutropenia (PN) syndrome. Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail. PN is a distinct and recognizable entity belonging to the group of poikiloderma syndromes among which Rothmund–Thomson is perhaps the best described and understood. PN is characterized by cutaneous poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. In order to delineate the phenotype of this rare genodermatosis, the clinical presentation together with the molecular investigations in our patients are reported and compared to those from the literature. © 2010 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825, 1552-4833
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.33600
Titel-ID: cdi_proquest_miscellaneous_879478177
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
Age of Onset
,
Biological and medical sciences
,
Body height
,
congenital neutropenia
,
Data processing
,
Dermatology
,
Female
,
Genodermatosis
,
GTPase-Activating Proteins
,
Humans
,
Infant
,
Lung
,
Male
,
Medical genetics
,
Medical sciences
,
Mutation
,
Nails
,
Neutropenia
,
Neutropenia - complications
,
Neutropenia - genetics
,
Nuclear Proteins - genetics
,
Open Reading Frames - genetics
,
Pedigree
,
Phenotype
,
Pigmentary diseases of the skin
,
poikiloderma
,
Recurrent infection
,
Rothmund-Thomson Syndrome - genetics
,
Siblings
,
Skin Diseases - genetics
,
Skin Pigmentation - genetics
,
Syndrome
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