De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient

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De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.3389/FGENE.2017.00105
P932PMC publication ID5550680
P698PubMed publication ID28848601

P50authorXiu-An YangQ61094070
Yajian WangQ90765645
P2093author name stringDeguo Liu
Deyun Liu
P2860cites workEvaluation of allelic expression of imprinted genes in adult human blood.Q33735829
Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.Q34233195
A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples).Q34236826
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyQ34465792
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.Q37965878
IGF2 and cancerQ38147784
The 5th national survey on the physical growth and development of children in the nine cities of China: Anthropometric measurements of Chinese children under 7 years in 2015.Q38856911
Diagnosis and management of Silver-Russell syndrome: first international consensus statementQ38944123
Paternally Inherited IGF2 Mutation and Growth RestrictionQ40758391
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndromeQ40964539
Bloom syndrome in short children born small for gestational age: a challenging diagnosis.Q43690687
Reference ranges for serum IGF-1 and IGFBP-3 levels in Chinese children during childhood and adolescenceQ44345922
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactylyQ48164473
Parental imprinting of the mouse insulin-like growth factor II gene.Q55052428
Regulation of the insulin-like growth factors and their binding proteins by glucocorticoid and growth hormone in nonislet cell tumor hypoglycemiaQ71710229
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndromeQ72778462
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlationsQ80341084
(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?Q83127099
No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disordersQ86416557
P921main subjectSilver-Russell syndromeQ2142496
P304page(s)105
P577publication date2017-08-08
P1433published inFrontiers in GeneticsQ2499875
P1476titleDe Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient
P478volume8

Reverse relations

cites work (P2860)
Q60930549Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
Q91846314Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action
Q91708356Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome
Q52340995Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

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