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
Congenital cutaneous fibropapillomatosis in a warmblood foal [PDF]
, 2016 In this report, clinical and histological findings of a rare case of a large congenital fibropapilloma on the forehead of a warmblood foal are reported. Surgical excision was curative and no recurrence was observed after nine months.
de Cock, Hilde +5 more
core +1 more source
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe +5 more
wiley +1 more source
Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia [PDF]
Journal of Clinical and Diagnostic Research, 2016 Mandakini Subhash Mandale +3 more
doaj +1 more source
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. [PDF]
Genet Med, 2021 Snijders Blok L +14 more
europepmc +1 more source
Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina +6 more
wiley +1 more source
Seasonal Variation in Congenital Abnormalities: Preliminary Report of a Survey Conducted by the Research Committee of Council of the College of General Practitioners [PDF]
, 1964 B. C. S. Slater +2 more
openalex +1 more source
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
Congenital abnormalities of the retinal vasculature in neurofibromatosis type I. [PDF]
Sci Rep, 2020 Chun BY +4 more
europepmc +1 more source