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671 articles
July 202624
Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.
The report describes four previously unreported patients with childhood-onset TOP3A-related mitochondrial disease, presenting with developmental delay, sensorineural hearing loss, cardiomyopathy with rhythm…
Chondrosarcoma Involving the Ciliary Body and Choroid.
A 56-year-old man with hereditary multiple exostoses and prior secondary low-grade chondrosarcomas developed a superotemporal visual field defect.
A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.
Diagnosing proximal urea cycle disorders (UCDs) remains challenging due to the lack of definitive diagnostic biochemical markers, which can lead to delayed or missed diagnosis.
Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression.
This report describes two patients with de novo CNKSR2 variants. A 17-year-old female presented with a novel splice-site variant and a relatively mild phenotype, while an 8-year-old male exhibited a recurrent nonsense…
Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF.
Strømme syndrome (MIM 243605) or a form of syndromic microcephaly have both been reported to be caused by biallelic variants in CENPF.
A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.
A 4-month-old boy from Jammu and Kashmir, born to consanguineous parents, presented with cutaneous symptoms, alopecia, developmental delay, hypotonia, and respiratory issues.
Disease Stabilization with MEK Inhibitors in NF1-Associated Plexiform Neurofibromas: A Systematic Review and Meta-Analysis with Subgroup Analyses by Age and Study Design.
This systematic review and meta-analysis evaluated the efficacy and safety of MEK inhibitors in 769 patients with NF1-associated plexiform neurofibromas (PN).
Progressive Parkinsonism in PPP2R5D-Related Neurodevelopmental Disorder.
PPP2R5D-related neurodevelopmental disorder (Houge-Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy.
Long-term clinical trajectory of microvillus inclusion disease associated with STXBP2-related familial hemophagocytic lymphohistiocytosis type 5: A case report.
A 22-year-old male with familial hemophagocytic lymphohistiocytosis type 5 presented with chronic diarrhea that began in infancy and persisted despite bone marrow transplantation.
17α-hydroxylase deficiency in a 46,XY individual with a hypoplastic uterus: In vitro functional validation of a CYP17A1 mutation.
17α-hydroxylase deficiency (17-OHD) is a rare autosomal recessive disorder caused by CYP17A1 mutations, and patients with a 46,XY karyotype typically lack a uterus.
Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.
Congenital disorders of glycosylation (CDG) comprise a diverse group of inherited metabolic diseases caused by defects in glycan biosynthesis.
Mosaic embryo transfer versus euploid embryo transfer after PGT-A: a systematic review and meta-analysis.
This systematic review and meta-analysis compared reproductive outcomes after mosaic versus euploid embryo transfer following PGT-A, pooling eight studies with 1904 mosaic and 9332 euploid transfers.
Defining genetic and physiopathological bases of orbital hypertelorism: about a systematic literature review.
This systematic literature review examined the genetic and physiopathological bases of orbital hypertelorism across various congenital disorders.
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.
Arthrogryposis multiplex congenita (AMC) is a group of conditions with congenital joint contractures in at least two body regions.
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.
The report describes 13 additional individuals with developmental and epileptic encephalopathy 73 associated with RNF13 variants: two had missense variants and 11 had truncating variants.
SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly.
A patient with complex congenital heart disease developed refractory chylothorax after surgery. Lymphatic imaging showed abnormal intercostal lymphatic perfusion consistent with central conducting lymphatic anomaly…
Novel Homozygous Mitochondrial Calcium Uptake Protein 1 Variant (c.38T>C, p.Leu13Pro) in a 7-year-old Girl with Congenital Ptosis and Proximal Myopathy: Expanding the Phenotypic Spectrum.
A 7-year-old Indian girl presented with global developmental delay, congenital nonfatigable right ptosis, and proximal-predominant myopathy without calf hypertrophy.
Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.
A child presented with global developmental delay, hypotonia, limb hypertonia, esotropia, and absence of early milestones, later showing partial motor improvement but persistent cognitive impairment.
Clinical and biochemical response to elexacaftor/tezacaftor/ivacaftor in a patient with the rare L927P/N1303K CFTR genotype.
A 25-year-old woman with advanced cystic fibrosis and the rare L927P/N1303K CFTR genotype showed significant clinical improvement after starting elexacaftor/tezacaftor/ivacaftor (ETI).
Delineating the epilepsy phenotype of ring chromosome 20: A systematic literature review.
This systematic literature review examined epilepsy features and outcomes in people with ring chromosome 20, drawing on 71 studies and 192 patients.
Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review.
Two patients with genetically confirmed complex I deficiency due to NDUFS1 and NDUFV2 variants presented with acute psychomotor regression and extensive white matter lesions.
Detection of adenoma, serrated lesion, and colorectal cancer in Lynch syndrome: a systematic review and meta-analysis.
This systematic review and meta-analysis assessed colorectal neoplasia detection and associated factors in people with Lynch syndrome.
Histopathologic Characterization of Cutaneous Oxalosis Mimicking Calciphylaxis: Diagnostic Pitfalls and Polarized Light Evaluation.
A 46-year-old woman with primary hyperoxaluria type 1, thought to be well controlled on lumasiran, was evaluated for skin lesions presumed to represent calciphylaxis.
Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.
This case series presents four fetuses with atypical prenatal phenotypes diagnosed through exome/genome sequencing. Notable findings included heterotaxy with complex heart disease, isolated long bone shortening, subtle…
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