Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.
about
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mappingHereditary and familial syndromes of bone and blood. Genetic pathways, diagnostic pitfalls.Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue.Extranodal Rosai-Dorfman Disease: Clinicopathologic Series of 10 Patients With Radiologic Correlation and Review of the Literature.Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH).Familial clustering of Langerhans cell histiocytosis.An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
P2860
Q33530133-47A74D1A-265E-4BEE-884E-93FD7C0EDD5EQ34388583-77094711-13E7-4CC6-B354-951E63A20514Q36871123-0C55E261-2ACE-4B13-88B4-108B5FF9AECAQ38189109-3401E60E-2AF4-4092-BD82-76D334F1C46FQ38709217-B824C685-8ACE-40ED-B845-4E5F8A86D9E5Q40617094-1253AEAB-5B7C-4660-8BF9-19E9CE55EDA5Q40785607-CF5F1E9E-33A2-4CD6-AEDB-5DF18C72B729Q50429034-D53BF84A-DFC2-4979-BD97-1A53D1743179
P2860
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.
description
1998 nî lūn-bûn
@nan
1998 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@ast
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@en
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@nl
type
label
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@ast
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@en
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@nl
prefLabel
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@ast
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@en
Autozygosity mapping, to chrom ...... s, and sensorineural deafness.
@nl
P2093
P2860
P356
P1476
Autozygosity mapping, to chrom ...... es, and sensorineural deafness
@en
P2093
A F Markham
D P McHale
L M Moynihan
R F Mueller
S E Bundey
P2860
P304
P356
10.1086/301824
P407
P577
1998-05-01T00:00:00Z