Results 191 to 200 of about 517,897 (319)

Multiple Furuncular Cutaneous Myiasis in a 4-Month-Old Infant in an Urban Setting: A Case Report From Cameroon. [PDF]

Case Rep Pediatr
Mekone Nkwele I, Ewane Ngole GL, Mpah Edimo CN, Chelo D.   +3 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Atypical Pruriginous Pustular Eruption Preceding Locally Advanced Rectal Cancer: A Case Report and Gut-Skin-Tumour Axis Hypothesis. [PDF]

Diagnostics (Basel)
Manciulea Profir M, Pavelescu LA, Crețoiu SM.   +2 more
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Atypical cutaneous candidiasis mimicking tinea corporis in an otherwise healthy young man: A case report. [PDF]

Med Mycol Case Rep
Liu S, Song Y, Wang A.
europepmc   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis

JAAD Case Reports, 2018
George D. Glinos, BS, Irena Pastar, PhD, Alessio Giubellino, MD, Marjana Tomic-Canic, PhD, Mariya Miteva, MD, Rivka C. Stone, MD, PhD   +5 more
doaj   +1 more source

Paraneoplastic Vasculitis in a Patient With Breast Cancer at an Unusual Age: A Case Report. [PDF]

Case Rep Oncol Med
Mandujano A, Golubov M, Gutiérrez V.
europepmc   +1 more source

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

The development of 2 clonally and histologically distinct subtypes of extranodal B-cell lymphomas in the brain and skin in 1 individual

JAAD Case Reports
Daniel Joffe, BS, Thomas Z. Rohan, BS, Jenna Mandel, BS, Jayson Suriano, BA, Lauren Banner, BS, Alexander Valiga, MD, Pierluigi Porcu, MD, Jerald Z. Gong, MD, Jason B. Lee, MD, Onder Alpdogan, MD, Neda Nikbakht, MD, PhD   +10 more
doaj   +1 more source