A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.
about
Congenital hypothyroidism, spiky hair, and cleft palate.Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testingStructural basis of substrate recognition and specificity in the N-end rule pathwayDeficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)The substrate recognition domains of the N-end rule pathway.Johanson-Blizzard syndromeShwachman's syndrome. A review of 21 cases.The Johanson-Blizzard syndrome.Genetics of the female reproductive ducts.Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndromeJohanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia.A case of Johanson-Blizzard syndrome complicated by diabetes mellitus.Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature.Hypovitaminosis E induced neuropathy in exocrine pancreatic failure.Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.Johanson-Blizzard syndrome: A challenge in nasal reconstructionEponym: Johanson-Blizzard syndrome.Mutations in the human UBR1 gene and the associated phenotypic spectrum.Physiological functions and clinical implications of the N-end rule pathway.Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.Odontotrichodysplasia: a case report with a review of conditions combining ectodermal dysplasia (subgroup 1-2) with skin manifestations.Heterogeneity of congenital primary hypothyroidism: the importance of thyroid scintigraphy.Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.Johanson-Blizzard syndrome.Oblique facial clefts in Johanson-Blizzard syndrome
P2860
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P2860
A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.
description
1971 nî lūn-bûn
@nan
1971 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1971 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1971年の論文
@ja
1971年論文
@yue
1971年論文
@zh-hant
1971年論文
@zh-hk
1971年論文
@zh-mo
1971年論文
@zh-tw
1971年论文
@wuu
name
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@ast
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@en
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@nl
type
label
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@ast
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@en
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@nl
prefLabel
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@ast
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@en
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@nl
P1476
A syndrome of congenital aplas ...... nent teeth, and malabsorption.
@en
P2093
Blizzard R
Johanson A
P304
P356
10.1016/S0022-3476(71)80194-4
P407
P577
1971-12-01T00:00:00Z