Matches in SemOpenAlex for { <https://semopenalex.org/work/W4214656323> ?p ?o ?g. }
- W4214656323 endingPage "99" @default.
- W4214656323 startingPage "92" @default.
- W4214656323 abstract "Chromosome 15q26-qter deletion syndrome is a rare disease that causes prenatal and postnatal growth retardation, microcephaly, developmental delay, and congenital heart diseases, mainly due to haploinsufficiency of IGF1R. In addition, patients with pathogenic variants of the IGF1R show similar symptoms. We report the case of a 5-month-old girl with prenatal and postnatal growth retardation, microcephaly, and congenital heart disease. At 5 months of age, her length was 54.7 cm (−4.3 SD), her weight was 4.4 kg (−3.1 SD), and her head circumference was 37.4 cm (−2.8 SD), thus presenting severe growth retardation. Repeated pre-feeding serum GH levels were abnormally high (26.1–85.5 ng/mL), and IGF-1 levels (+0.16 to +1.2 SD) were relatively high. The 15q sub-telomere fluorescence in situ hybridization analysis revealed a heterozygous deletion in the 15q terminal region. Whole-genome single nucleotide polymorphism microarray analysis showed a terminal deletion of 6.4 Mb on 15q26.2q26.3. This is the first report showing that fasting GH levels are high in early infancy in patients with IGF1R abnormalities. In addition to relatively high IGF-1 levels, elevated fasting GH levels in early infancy may contribute to the diagnosis of IGF1R abnormalities." @default.
- W4214656323 created "2022-03-02" @default.
- W4214656323 creator A5001362014 @default.
- W4214656323 creator A5008770782 @default.
- W4214656323 creator A5046828151 @default.
- W4214656323 creator A5047849518 @default.
- W4214656323 creator A5058968510 @default.
- W4214656323 creator A5069598820 @default.
- W4214656323 creator A5085906843 @default.
- W4214656323 date "2022-02-23" @default.
- W4214656323 modified "2023-09-25" @default.
- W4214656323 title "Diagnosis of Chromosome 15q-Terminal Deletion Syndrome through Elevated Fasting Serum Growth Hormone Levels" @default.
- W4214656323 cites W1968013224 @default.
- W4214656323 cites W1970333027 @default.
- W4214656323 cites W1970563875 @default.
- W4214656323 cites W1987664922 @default.
- W4214656323 cites W1989434146 @default.
- W4214656323 cites W2002108998 @default.
- W4214656323 cites W2014610815 @default.
- W4214656323 cites W2019685965 @default.
- W4214656323 cites W2033294970 @default.
- W4214656323 cites W2038254679 @default.
- W4214656323 cites W2049570496 @default.
- W4214656323 cites W2052027297 @default.
- W4214656323 cites W2054256866 @default.
- W4214656323 cites W2057531125 @default.
- W4214656323 cites W2058072501 @default.
- W4214656323 cites W2068373267 @default.
- W4214656323 cites W2088659156 @default.
- W4214656323 cites W2094988923 @default.
- W4214656323 cites W2097116962 @default.
- W4214656323 cites W2102271265 @default.
- W4214656323 cites W2106524376 @default.
- W4214656323 cites W2113820455 @default.
- W4214656323 cites W2119094408 @default.
- W4214656323 cites W2146795787 @default.
- W4214656323 cites W2149578816 @default.
- W4214656323 cites W2149902183 @default.
- W4214656323 cites W2153415589 @default.
- W4214656323 cites W2154166875 @default.
- W4214656323 cites W2164971036 @default.
- W4214656323 cites W2713283324 @default.
- W4214656323 cites W2773433131 @default.
- W4214656323 cites W2801247120 @default.
- W4214656323 cites W2884327096 @default.
- W4214656323 cites W2921592391 @default.
- W4214656323 cites W2978474645 @default.
- W4214656323 cites W3022573253 @default.
- W4214656323 cites W3092239298 @default.
- W4214656323 cites W3126776673 @default.
- W4214656323 cites W3180699514 @default.
- W4214656323 doi "https://doi.org/10.3390/endocrines3010008" @default.
- W4214656323 hasPublicationYear "2022" @default.
- W4214656323 type Work @default.
- W4214656323 citedByCount "0" @default.
- W4214656323 crossrefType "journal-article" @default.
- W4214656323 hasAuthorship W4214656323A5001362014 @default.
- W4214656323 hasAuthorship W4214656323A5008770782 @default.
- W4214656323 hasAuthorship W4214656323A5046828151 @default.
- W4214656323 hasAuthorship W4214656323A5047849518 @default.
- W4214656323 hasAuthorship W4214656323A5058968510 @default.
- W4214656323 hasAuthorship W4214656323A5069598820 @default.
- W4214656323 hasAuthorship W4214656323A5085906843 @default.
- W4214656323 hasBestOaLocation W42146563231 @default.
- W4214656323 hasConcept C104317684 @default.
- W4214656323 hasConcept C126322002 @default.
- W4214656323 hasConcept C127716648 @default.
- W4214656323 hasConcept C134018914 @default.
- W4214656323 hasConcept C177336024 @default.
- W4214656323 hasConcept C2776395126 @default.
- W4214656323 hasConcept C2779234561 @default.
- W4214656323 hasConcept C3020705096 @default.
- W4214656323 hasConcept C54355233 @default.
- W4214656323 hasConcept C68838962 @default.
- W4214656323 hasConcept C71924100 @default.
- W4214656323 hasConcept C86803240 @default.
- W4214656323 hasConceptScore W4214656323C104317684 @default.
- W4214656323 hasConceptScore W4214656323C126322002 @default.
- W4214656323 hasConceptScore W4214656323C127716648 @default.
- W4214656323 hasConceptScore W4214656323C134018914 @default.
- W4214656323 hasConceptScore W4214656323C177336024 @default.
- W4214656323 hasConceptScore W4214656323C2776395126 @default.
- W4214656323 hasConceptScore W4214656323C2779234561 @default.
- W4214656323 hasConceptScore W4214656323C3020705096 @default.
- W4214656323 hasConceptScore W4214656323C54355233 @default.
- W4214656323 hasConceptScore W4214656323C68838962 @default.
- W4214656323 hasConceptScore W4214656323C71924100 @default.
- W4214656323 hasConceptScore W4214656323C86803240 @default.
- W4214656323 hasIssue "1" @default.
- W4214656323 hasLocation W42146563231 @default.
- W4214656323 hasOpenAccess W4214656323 @default.
- W4214656323 hasPrimaryLocation W42146563231 @default.
- W4214656323 hasRelatedWork W1969192040 @default.
- W4214656323 hasRelatedWork W2013960233 @default.
- W4214656323 hasRelatedWork W2013983432 @default.
- W4214656323 hasRelatedWork W2029131039 @default.
- W4214656323 hasRelatedWork W2041709845 @default.
- W4214656323 hasRelatedWork W2106458194 @default.