Micropublications

DOI Case ID Title Created
https://doi.org/10.60723/9976 9976 A case of PSMC5-associated neurodevelopmental proteasomopathy 3.1.2024
https://doi.org/10.60723/10654 10654 Case report of an adult woman with Phelan-McDermid-Syndrome 20.2.2024
https://doi.org/10.60723/13037 13037 The distinctive gestalt of the CDK13-related developmental disorder is grossly independent from ethnical variance 9.12.2024
https://doi.org/10.60723/11222 11222 An adult case of Koolen-de Vries syndrome - Is post-lingual sensorineural hearing loss less infrequent than commonly assumed? 31.3.2024
https://doi.org/10.60723/11192 11192 Broad phenotypic spectrum of SYNGAP1-related disorder: a case with epilepsy, severe developmental delay, and atypical sensory features 28.3.2024
https://doi.org/10.60723/11195 11195 Atypical presentation of Glass syndrome in a child with epilepsy, autism, and unusual bleeding and thermoregulation issues 28.3.2024
https://doi.org/10.60723/11189 11189 Multiple congenital anomalies-hypotonia-seizures syndrome 3 in a child with cerebellar ataxia and autism: evidence of phenotypic expansion 28.3.2024
https://doi.org/10.60723/11193 11193 Hyperphosphatasia with mental retardation syndrome type 1 in a child with seizures and craniofacial anomalies 28.3.2024
https://doi.org/10.60723/11194 11194 Baraitser-Winter syndrome type 1 in an infant with craniofacial dysmorphism, facial asymmetry, and sensorineural hearing loss 28.3.2024
https://doi.org/10.60723/11284 11284 Severe congenital hearing loss due to a homozygous SLC26A4 splice variant 5.4.2024
https://doi.org/10.60723/15432 15432 ZMYND11-related syndromic intellectual disability diagnosis in a case with classic Cornelia de Lange syndrome phenotype 5.10.2025
https://doi.org/10.60723/9953 9953 Deep intronic NIPBL splice site variant in a patient with a mild presentation of classic Cornelia de Lange syndrome phenotype 3.1.2024
https://doi.org/10.60723/9932 9932 Cornelia de Lange Syndrome in a woman with mild phenotype and advanced age 2.1.2024
https://doi.org/10.60723/11223 11223 Clinically-mild CHD8-related neurodevelopmental disorder with overgrowth in adulthood 31.3.2024
https://doi.org/10.60723/9958 9958 Classic Cornelia de Lange syndrome phenotype in a patient with a mosaic NIPBL variant absent in blood 3.1.2024
https://doi.org/10.60723/11494 11494 Beyond Asymptomatic Carriers: Clinical Burden of a KDM5C Female Patient 13.5.2024
https://doi.org/10.60723/9003 9003 ZTTK Syndrome in Early Childhood: A Case Report 2.5.2023
https://doi.org/10.60723/13098 13098 Multiexon SOX5 Deletion in a Male with Lamb-Shaffer Syndrome 18.12.2024
https://doi.org/10.60723/12249 12249 Expanding the Phenotypic Spectrum of BRSK2-Related Neurodevelopmental Disorder: A Case with Bilateral Ptosis and Dysmorphic Features 26.8.2024
https://doi.org/10.60723/14389 14389 Myhre syndrome due to a recurrent SMAD4 p.Arg496Cys variant in a 17-year-old boy: clinical and neuroimaging findings 18.5.2025
https://doi.org/10.60723/11137 11137 Atypical Wolf–Hirschhorn Syndrome in a Boy with a Novel NSD2 Loss-of-Function Variant 26.3.2024
https://doi.org/10.60723/11140 11140 Parietal foramina 2 in a 5-year-old girl with persistent open fontanels and dysmorphic features 26.3.2024
https://doi.org/10.60723/15390 15390 Identification of a pathogenic variant in KAT6B in a patient with genitopatellar syndrome: A case report 30.9.2025
https://doi.org/10.60723/15389 15389 Wiedemann-Steiner syndrome diagnosis in a patient with clinical suspicion of Rubinstein-Taybi syndrome 30.9.2025
https://doi.org/10.60723/11393 11393 Case report of a girl with PTEN hamartoma tumor syndrome 24.4.2024
https://doi.org/10.60723/11458 11458 Trio exome reveals PSMC5-associated neurodevelopmental proteasomopathy in an 18-year-old male with mild ID, microcephaly, and facial dysmorphism 8.5.2024
https://doi.org/10.60723/9819 9819 SLC6A8-associated creatine transporter deficiency in a female individual with normal urine and plasma creatine metabolite levels, but a 50% reduction in the cerebral creatine peak on quantitative reanalysis of MR spectroscopy 17.11.2023
https://doi.org/10.60723/9820 9820 A case of RAI-related Smith-Magenis sydrome with obesity and small-stepped and robotic gait 17.11.2023
https://doi.org/10.60723/9822 9822 A case of SMC3-related Cornelia de Lange syndrome 17.11.2023
https://doi.org/10.60723/13108 13108 A case with coarse facial features, mandibular prognathia, and macrotia, in combination with neurobehavioral abnormalities and a missense variant in ABCA2 18.12.2024
https://doi.org/10.60723/14032 14032 Verheij Syndrome with normal intelligence after a 10-year diagnostic odyssey 17.4.2025
https://doi.org/10.60723/14021 14021 GestaltMatcher facial analysis helped confirm the diagnosis of Chung-Jansen Syndrome 16.4.2025
https://doi.org/10.60723/11041 11041 Novel ZBTB20 variant in a patient with Primrose syndrome 20.3.2024
https://doi.org/10.60723/9974 9974 A case of PSMC5-associated neurodevelopmental proteasomopathy 3.1.2024
https://doi.org/10.60723/10886 10886 Case report of x-linked spinal and bulbar muscular atrophy with pronounced facial muscle atrophy and fasciculations 8.3.2024
https://doi.org/10.60723/7155 7155 Novel De Novo KMT2A Missense Variant in a Boy with Wiedemann-Steiner Syndrome 17.6.2022
https://doi.org/10.60723/7104 7104 Novel Homozygous SCARF2 Nonsense Variant in Two Siblings with Van den Ende-Gupta Syndrome 13.5.2022
https://doi.org/10.60723/11173 11173 Expanding the Clinical Presentation of Wisconsin Syndrome: A 3q24q25.3 Deletion Including ZIC1 and ZIC4 28.3.2024
https://doi.org/10.60723/15254 15254 A homozygous synonymous NOP58 variant associated with a novel ribosomopathy 18.9.2025
https://doi.org/10.60723/8277 8277 CTNNB1 Syndrome with Spinal Lipoma: A Case Report Highlighting Medullary Involvement 21.11.2022
https://doi.org/10.60723/9315 9315 Molecular autopsy leading to the diagnosis of TBCK-associated disorder 16.6.2023
https://doi.org/10.60723/11244 11244 Novel de novo JAG1 frameshift mutation in Alagille syndrome with early liver transplant requirement 2.4.2024
https://doi.org/10.60723/9281 9281 Case report of a girl with NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA (ZMIZ1 related) 1.6.2023
https://doi.org/10.60723/9903 9903 From Face to Function: SEC24C Deficiency Mimics GPI-Anchor Biosynthesis Disorder 19.12.2023
https://doi.org/10.60723/11221 11221 SATB2-associated syndrome and a splice-site variant 31.3.2024
https://doi.org/10.60723/9660 9660 Clinical Variability in MECP2 Duplication Syndrome: Highlighting Sialorrhea as the Daily Challenge 8.9.2023
https://doi.org/10.60723/14383 14383 A familial case of KMT5B-associated autosomal dominant neurodevelopmental disorder 18.5.2025
https://doi.org/10.60723/10693 10693 Atypical presentation of a case with Noonan syndrome with multiple lentigines 22.2.2024

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