Results 191 to 200 of about 1,448,973 (364)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Demographic and Socioeconomic Disparities in Congenital Hand Difference Surgery. [PDF]

Curr Rev Musculoskelet Med
King ECB, Howard Q, Santucci E.
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Congenital Toxoplasmosis With Atypical Neuroimaging: Hydrocephalus and Bilateral Chorioretinitis Without Intracranial Calcifications. [PDF]

Case Rep Radiol
Dhakal S, Regmi PR, Dhakal P, Adhikari B, Shingh SS, Paudel BS.   +5 more
europepmc   +1 more source

Unexpected Sudden Death of a 19-Year-Old Female with Congenital Single Coronary Artery Ostium during Exertion [PDF]

, 2011
You-Jin Won, Hee-Jin Kim, Ho Lee
openalex   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Evolving Congenital Hypertrophy of the Retinal Pigment Epithelium in a Pediatric Patient. [PDF]

J Vitreoretin Dis
Pan S, Lim J, Mai D, Pirouz A, Adrean SD.   +4 more
europepmc   +1 more source

Additional file 1: of A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract

, 2019
Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang, Yi Lü   +7 more
openalex   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Supplementary Material for: Long-Term Lanreotide Treatment in Six Patients with Congenital Hyperinsulinism

, 2012
Peter Kühnen, Jan Marquard, Andrea Ernert, Thomas Meißner, Klemens Raile, G. Wannenmacher, Oliver Blankenstein   +6 more
openalex   +1 more source