Congenital Abnormalities of the Femur:A brief review of the cases observed at the Alfred I. du Pont Institute and a report of the treatment of one case of partial absence [PDF]
, 1962 Alfred R. Shands, G. Dean MacEwen
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Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
Omphalocoeles: A decade in review
South African Journal of Child Health, 2016 Background. Omphalocoeles are associated with significant morbidity and mortality. The presentation varies greatly and management options differ accordingly. Limited literature exists regarding the varied presentation, associated congenital abnormalities
Simmi Singh, Anil Madaree
doaj
Congenital Hemolytic Disease Associated with Red Cell Inclusion Bodies, Abnormal Pigment Metabolism and an Electrophoretic Hemoglobin Abnormality [PDF]
, 1960 Joseph L. Scott +3 more
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A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri +3 more
wiley +1 more source
Abnormalities accompanying some congenital eye diseases.
, 1951 Hisayoshi Yoshida
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Abnormalities of Urinary Tract and Skeleton Associated with Congenital Absence of Vagina [PDF]
, 1966 Sunil Kumar Chawla, K. Bery, K. J. Indra
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt +4 more
wiley +1 more source
Multiple Congenital Abnormalities [PDF]
Proceedings of the Royal Society of Medicine, 1948 openaire +3 more sources
Book Review: Congenital Abnormalities in Infancy [PDF]
, 1963 D F Ellison Nash
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