Results 221 to 230 of about 173,062 (307)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Current status and prospects of prenatal ultrasound diagnosis of congenital heart disease in fetuses: a narrative review. [PDF]

Transl Pediatr
Xin H, Wang L, Ding G, Ding G, Meng L, Wan H.   +5 more
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Analysis of influencing factors of congenital heart disease in children in Luzhou, China: a case-control study. [PDF]

Front Med (Lausanne)
Zhang C, Pan Y, Yang M.
europepmc   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

Pentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis. [PDF]

JACC Case Rep
Alanís-Naranjo JM, De la Cruz-Pelayo J, de la Mora-Cervantes R, Gamboa-Abundis OA, Meave-González A, Cruz-Marmolejo MÁ.   +5 more
europepmc   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Novel Missense Variants in <i>TRIM37</i> Associated with Mulibrey Nanism and Complex Congenital Heart Disease. [PDF]

Cardiol Cardiovasc Med
Zodanu GKE, Zeigler AC, Mudery J, Wolf C, Hwang JH, Kang X, Speirs A, Wang LK, Biniwale R, Si MS, Halnon N, Satou GM, UCLA Congenital Heart Defects BioCore Faculty, Grody WW, Van Arsdell GS, Nelson SF, Touma M.   +16 more
europepmc   +1 more source

Age at First RSV Hospitalisation and the Risk of Subsequent Bacterial Pneumonia

Acta Paediatrica, EarlyView.
Samuel Videholm, Karin Strandell, Maria Björmsjö, Andreas Tornevi, Sven Arne Silfverdal   +4 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source