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512 articles
May 202624
Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum.
Three individuals presented with mosaic hypopigmentation along Blaschko's lines, some exhibiting neurodevelopmental features. Deep next-generation sequencing of skin biopsies revealed postzygotic ACTB variants.
Galli-Galli Disease (Dowling-Degos Disease Type 3) Associated with a Novel POGLUT1 Nonsense Variant: Clinicopathologic and Immunohistochemical Correlation.
A 55-year-old man presented with recurrent pruritic erythematous scaly papules on the trunk and hyperkeratotic brown papules on the neck and chest.
Two Atypical Cases of Adams-Oliver Syndrome With DOCK6 Genetic Variants.
Two unrelated children with compound heterozygous DOCK6 variants had global developmental delay and visual impairment. Neither had the scalp aplasia cutis congenita or terminal transverse limb defects that characterize…
Gastrointestinal involvement in Ehlers-Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant.
A 16th patient with Ehlers-Danlos syndrome classical-like type 2 (clEDS2) presented with spontaneous bowel perforation following rectal cancer surgery.
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature.
An infant presented with lactic acidosis, refractory epilepsy with encephalopathy, hyperglycinemia, and severe pulmonary arterial hypertension.
Co-Occurrence of Achondroplasia and 16p11.2 Deletion Syndrome in a Child With Group 4 Medulloblastoma: Expanding the Spectrum of Dual Genetic Diagnoses.
A 13-year-old male with genetically confirmed achondroplasia (FGFR3 c.1138G > A) and a de novo 16p11.2 microdeletion developed metastatic Group 4 medulloblastoma at age 12, with leptomeningeal dissemination (M3).
A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.
A 7-year-old girl presented with generalized hypotonia, areflexia, and progressive respiratory insufficiency requiring tracheostomy and gastrostomy, but notably lacked congenital fractures, which are typical in spinal…
Dental and Dentofacial Findings in a Child With CHOPS Syndrome Managed Under General Anesthesia.
An 11-year-old male with CHOPS syndrome presented with multiple dental caries. Examination revealed midface hypoplasia, coarse facial features, and intraoral findings including enamel hypoplasia and a high palatal vault.
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review.
A 12-year-old individual presented with global developmental delay, microcephaly, spastic quadriplegia, bilateral polydactyly, ambiguous genitalia, and semi-lobar holoprosencephaly.
Adult Case of Stüve-Wiedemann Syndrome.
A 35-year-old woman with Stüve-Wiedemann syndrome was diagnosed at age 34 after clinical exome sequencing found homozygous pathogenic LIFR c.756dup (p.Lys253*) variants.
A novel heterozygous GRN deletion (c.302_315del) associated with behavioral variant frontotemporal dementia.
A 64-year-old woman presented with progressive behavioral and cognitive decline, including personality change, apathy, disinhibition, irritability, executive dysfunction, and memory impairment.
Expanding the Genetic and Clinical Spectrum of GZF1 -Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome.
GZF1-related phenotype (GZF1RP) has been referred to by different names, including autosomal recessive Larsen syndrome (LRS) and "joint laxity, short stature, and myopia".
Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.
A patient presented with global developmental delay, hypotonia, cerebral hypomyelination, and peripheral hypomyelinating polyneuropathy, alongside frequent fractures and juvenile ossifying fibroma.
Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.
An 11-year-old girl presented with overgrowth, typical craniofacial features, global neurodevelopmental delay, and borderline intelligence.
Visual stimulation therapy in spinocerebellar ataxia type 29: Case report.
A 4-month-old boy was referred with vertical nystagmus and absent visual fixation. Examination showed axial hypotonia and profound visual impairment, classified as cerebral visual impairment (CVI) using the VAS CVI-PIMD…
A case of congenital thrombotic thrombocytopenic purpura presenting with renal dysfunction in adulthood caused by a novel compound heterozygous ADAMTS13 mutation.
A 36-year-old male presented with acute thrombocytopenia and a 5-year history of chronic thrombocytopenia, alongside 3 months of renal dysfunction.
Homozygous R383H variant in IDUA gene causing pericentric retinitis pigmentosa in attenuated mucopolysaccharidosis type I.
A patient presented with congenital dyschromatopsia, adult-onset pericentric retinitis pigmentosa, and cardiac valve disease.
Severe cervical deformity due to neurofibromatosis type 1 treated by posterior spinal fusion using a multi-rod construct: a case report.
A 39-year-old man with neurofibromatosis type 1 was airlifted with neck pain and paralysis of both upper extremities. Radiographs and CT showed severe cervical deformity, including anterior displacement of the C5…
Targeted Genetic Testing Uncovers a Novel LRP4 Variant in Cenani-Lenz Syndactyly Syndrome.
A consanguineous family presented with Cenani-Lenz syndactyly syndrome (CLSS), affecting two brothers and their two maternal male cousins.
A fetus with severe developmental defects caused by dominant-negative and hypomorphic ATG7 alleles.
Macroautophagy/autophagy is a fundamental process for neuronal homeostasis, yet its role in human development, notably brain development, remains poorly understood.
Fresh frozen plasma as functional replacement therapy in early infantile ApoC-II deficiency: a molecularly confirmed case series.
Three male infants from consanguineous families presented with extreme hypertriglyceridemia, with levels ranging from 3,228 to 5,802 mg/dL, due to homozygous APOC2 c.55+1G>C pathogenic variant.
Case Report: Fetal Congenital Right Atrial Appendage Aneurysm With 2-Year Postnatal Follow-Up.
A fetal congenital right atrial appendage aneurysm (RAAA) was diagnosed unusually early in the first trimester, with characteristic echocardiographic features showing a cystic structure connected to the right atrial…
Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder.
Two siblings presented with neurodevelopmental delay and multiple congenital anomalies, including esophageal atresia and developmental dysplasia of the hip.
Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II.
This study evaluated the impact of shortening infusion durations on the safety and efficacy of enzyme replacement therapy (ERT) with pabinafusp alfa in 27 Japanese patients with mucopolysaccharidosis II (MPS II).
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