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Select item 110020601.

Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1

Tianli Wei, Shuguang Shan, Zhaojun Jia, Yingxue Ding

Heliyon. 2024 Apr 15; 10(7): e28678. Published online 2024 Mar 29. doi: 10.1016/j.heliyon.2024.e28678

PMCID:: PMC11002060

Article PDF–6.6M

Select item 109325972.

Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations

M Milojković, M Jarić, V Stojanović, N Barišić, I Kavečan

Balkan J Med Genet. 2023 Dec; 26(2): 73–76. Published online 2024 Mar 12. doi: 10.2478/bjmg-2023-0015

PMCID:: PMC10932597

Article PDF–196K

Select item 109246503.

Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report

Prachi Sharma, Sham Lohiya, Keta Vagha, Jayant D Vagha, Himanshu Raj, Roshan Prasad

Cureus. 2024 Feb; 16(2): e53898. Published online 2024 Feb 9. doi: 10.7759/cureus.53898

PMCID:: PMC10924650

Article PDF–1.5M

Select item 108936694.

Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia

Zahra Hakimzadeh, Abolfazl Gilani, Parsa Yousefichaijan, Roham Sarmadian

J Med Case Rep. 2024; 18: 73. Published online 2024 Feb 24. doi: 10.1186/s13256-024-04406-5

PMCID:: PMC10893669

Article PDF–1.2M

Select item 107761875.

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park

Case Rep Genet. 2024; 2024: 5906936. Published online 2024 Jan 2. doi: 10.1155/2024/5906936

PMCID:: PMC10776187

Article PDF–692K

Select item 107676036.

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review

Ling Su, Min‐Zhi Peng, Xiao‐Dan Chen, Shuang Wu, Li Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2315. Published online 2023 Nov 14. doi: 10.1002/mgg3.2315

PMCID:: PMC10767603

Article PDF–1.2M

Select item 106061107.

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella

Genes (Basel) 2023 Oct; 14(10): 1958. Published online 2023 Oct 18. doi: 10.3390/genes14101958

PMCID:: PMC10606110

Article PDF–707K

Select item 105248198.

Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma

Syeda Farwa Naqvi, Esra Yıldız-Bölükbaşı, Muhammad Afzal, Gökhan Nalbant, Sara Mumtaz, Aslıhan Tolun, Sajid Malik

Yale J Biol Med. 2023 Sep; 96(3): 347–365. Published online 2023 Sep 29. doi: 10.59249/SSRG6507

PMCID:: PMC10524819

Article PDF–2.4M

Select item 104834989.

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Yusuke Noda, Jun Kido, Yohei Misumi, Keishin Sugawara, Sachiko Ohori, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

Clin Case Rep. 2023 Sep; 11(9): e7779. Published online 2023 Sep 7. doi: 10.1002/ccr3.7779

PMCID:: PMC10483498

Article PDF–7.1M

Select item 1048293410.

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia

Hana Milena Fujimoto, Masanori Fujimoto, Takahiro Sugiura, Shigeharu Nakane, Yasuhiro Wakano, Emi Sato, Hironori Oshita, Yasuko Togawa, Mari Sugimoto, Takenori Kato, Kazushi Yasuda, Kanji Muramatsu, Shinji Saitoh

Hum Genome Var. 2023; 10: 24. Published online 2023 Sep 6. doi: 10.1038/s41439-023-00253-w

PMCID:: PMC10482934

Article PDF–861K

Select item 1042206011.

A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay

Dong Wang, Jin Wu

Mol Genet Genomic Med. 2023 Aug; 11(8): e2227. Published online 2023 Jun 18. doi: 10.1002/mgg3.2227

PMCID:: PMC10422060

Article PDF–2.6M

Select item 1039891212.

An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report

Jianmin Liang, Cuijuan Xin, Meiying Xin, Guangliang Wang, Xuemei Wu

BMC Med Genomics. 2023; 16: 181. Published online 2023 Aug 3. doi: 10.1186/s12920-023-01616-6

PMCID:: PMC10398912

Article PDF–898K

Select item 1028515213.

A rare early-onset neonatal case of Birk-Barel syndrome presenting severe obstructive sleep apnea: a case report

Qian Zhang, Zhen Qin, Ruolan Hu, Yifei Li, Fan Yang, Jinrong Li

Front Med (Lausanne) 2023; 10: 1180337. Published online 2023 Jun 8. doi: 10.3389/fmed.2023.1180337

PMCID:: PMC10285152

Article PDF–1.5M

Select item 1021496814.

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene

Fatma Özgüç Çömlek, Selma Demir, Hakan Gürkan, Mustafa İnan, Atakan Sezer, Emine Dilek, Filiz Tütüncüler Kökenli

Pediatr Endocrinol Diabetes Metab. 2022 Jun; 28(2): 168–174. Published online 2022 Mar 31. doi: 10.5114/pedm.2022.115070

PMCID:: PMC10214968

Article PDF–1.1M

Select item 1011871215.

6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation

Manisha Goyal, Mohammed Faruq, Ashok Gupta, Divya Shrivastava, Uzma Shamim

J Pediatr Genet. 2023 Jun; 12(2): 141–143. Published online 2021 Jan 6. doi: 10.1055/s-0040-1721739

PMCID:: PMC10118712

Article PDF–370K

Select item 1010825116.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet

Clin Genet. 2023 Mar; 103(3): 346–351. Published online 2022 Dec 2. doi: 10.1111/cge.14264

PMCID:: PMC10108251

Article PDF–964K

Select item 1008048417.

Identification of a novel splicing variant in the phosphatidylinositol glycan class S (PIGS) gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report

Wenhui Li, Shuizhen Zhou

Transl Pediatr. 2023 Mar 31; 12(3): 514–520. Published online 2023 Mar 6. doi: 10.21037/tp-22-317

PMCID:: PMC10080484

Article PDF–448K

Select item 1003981818.

A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function

Andreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, Claudia Groß, Albert Sickmann, Ulrike Schara-Schmidt, Fabian Förster, Ana Töpf, Jon Christiansen, Rita Horvath, Matthias Vorgerd, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller, Corinna Preusse, Luis Hannappel, Anne Schänzer, Anika Grüneboom, Andrea Gangfuß, Andreas Roos

Mol Neurobiol. 2023; 60(5): 2602–2618. Published online 2023 Jan 24. doi: 10.1007/s12035-023-03219-9

Correction in:: Mol Neurobiol. 2023; 60(7): 4164.

PMCID:: PMC10039818

Article PDF–5.9M

Select item 996976219.

A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report

Malika Foy, Corinne Métay, Michael Frank, Nicolas Denarié, Salma Adham, Clarisse Billon, Anne Legrand, Xavier Jeunemaitre, Fabrice Gillas, Karen Gaudon, Philippe De Mazancourt, Ahmed Mekki, Robert Carlier, Karelle Benistan

Clin Case Rep. 2023 Feb; 11(2): e6760. Published online 2023 Feb 27. doi: 10.1002/ccr3.6760

PMCID:: PMC9969762

Article PDF–1.6M

Select item 988467120.

Case report: Rare novel MIPEP compound heterozygous variants presenting with hypertrophic cardiomyopathy, severe lactic acidosis and hypotonia in a Chinese infant

Ling Wang, Pengtao Lu, Jie Yin, Kangkang Xu, Dandan Xiang, Zhongman Zhang, Han Zhang, Bixia Zheng, Wei Zhou, Chunli Wang, Shiwei Yang

Front Cardiovasc Med. 2022; 9: 1095882. Published online 2023 Jan 16. doi: 10.3389/fcvm.2022.1095882

PMCID:: PMC9884671

Article PDF–895K

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