Papers matching “autosomal recessive inheritance” 34
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Deleterious variants inCRLS1lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease2022 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Richard G. Lee, Shanti Balasubramaniam, Maike Stentenbach, Thomas Kralj, Tim McCubbin, Benjamin Scott Padman, +23 more
42citations -
Patient with an autosomal‐recessive MBTPS1 ‐linked phenotype and clinical features of Silver–Russell syndrome2020 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Robert Meyer, Miriam Elbracht, Thomas Opladen, Thomas Eggermann
17citations -
A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life2022 The Nephron journals/Nephron journals article Medicine Potassium and Related Disorders Open access
Annika Etges, Nicole Hellmig, Gudrun Walenda, Bassam G. Haddad, Jan‐Philipp Machtens, Thomas Morosan, +2 more
9citations -
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants2021 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Katja Kloth, Bernarda Lozić, Julia Tagoe, Mariëtte J.V. Hoffer, Amelie T. van der Ven, Hölger Thiele, +6 more
28citations -
CARD9 deficiency with allergic bronchopulmonary aspergillosis (ABPA)-like presentation: a case report2023 Oxford Medical Case Reports article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Mazdak Fallahi, Seyed Alireza Mahdaviani, Mohammadreza Shafiei, Soodeh Ghadimi, Nima Rezaei, Christoph A. Klein, +2 more
6citations -
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G2026 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Rocío N. Villar‐Quiles, Aileen Reghan Foley, Corinne Métay, Rotem Orbach, Sandra C. Donkervoort, Beatrice Labella, +22 more
0citations -
Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Seyed Mohsen Dehghani, Bita Geramizadeh, Ralf Weiskirchen
0citations -
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome2022 The American Journal of Human Genetics article Medicine Genetic factors in colorectal cancer Open access
Claire Palles, Hannah D. West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E. Grolleman, +62 more
82citations -
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP12020 European Journal of Human Genetics article Medicine Fetal and Pediatric Neurological Disorders Open access
Bart Appelhof, Matias Wagner, Julia Hoefele, Timo Roser, Margarete Koch‐Hogrebe, Stefan D. Roosendaal, +10 more
30citations -
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC2020 Human Mutation article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Heike Kölbel, Andreas Roos, Peter F. M. van der Ven, Teresinha Evangelista, Kay Wilhelm Nolte, Katherine Johnson, +9 more
18citations -
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy2022 European Journal of Human Genetics article Medicine Cardiomyopathy and Myosin Studies Open access
Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Nasser Al-Hassnan, +17 more
15citations -
Deciphering DST -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy2025 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T. Achleitner, +46 more
3citations -
Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family2021 Journal of Clinical Neuromuscular Disease article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Violeta Mihaylova, Fabian Chablais, Juliane Bremer, Roman Guggenberger, Elisabeth Jane Rushing, Tobias Bethge, +2 more
3citations -
Congenital Glaucoma in Patients with Neonatal Diabetes and Congenital Hypothyroidism (NDH) Syndrome2025 Klinische Monatsblätter für Augenheilkunde article Biochemistry, Genetics and Molecular Biology Ocular Disorders and Treatments
Julia Prinz, Felix Schreiner, Pascal Schipper, Claus Cursiefen, Karl Mercieca, Verena Prokosch
0citations -
Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND2024 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Bone Metabolism and Diseases Open access
Thomas Funck‐Brentano, M. Carola Zillikens, Gavin P. R. Clunie, Heide Siggelkow, Natasha M. Appelman‐Dijkstra, Martine Esther Cohen-Solal
19citations -
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC12021 Hormone Research in Paediatrics article Medicine Telomeres, Telomerase, and Senescence Open access
Joel Riquelme, Sanami Takada, Tessa van Dijk, Merel W. Boogaard, Hermine A. van Duyvenvoorde, Ingrid Pico‐Knijnenburg, +4 more
10citations