Congenital Adrenal Hyperplasia Presenting as Life Threatening Hyponatremic Dehydration: A Tale of Missed Diagnosis by Dinkar Yadav, Poonam Dalal, Kapil Bhalla, Geeta Gathwala

Subjects: “…autosomal recessive disorder…”
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Bardet-Biedl Syndrome Late Diagnosis with a Great Disability: A Case Report by Oriana Amata, Enrica Scalisi, Alessandro Conti, Giuseppe Umana, Matteo Cioni

Subjects: “…autosomal recessive disorder…”
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Nijmegen breakage syndrome – NBS: а rare clinical case in Kazakhstan by Elena F. Kovzel, Bayan Gani, Adil A. Zhamankulov, Assel K. Baigojayeva

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Papillon-Lefevre syndrome by S Sujatha, Namita Raghav

Subjects: “…Autosomal recessive disorder…”
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Laparoscopic sleeve gastrectomy in a patient with situs inversus totalis: A case report by Mohammed A. Bawahab, FRCSC

Subjects: “…Autosomal recessive disorder…”
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Case Report: First Documented Hip Arthroplasty on Chinese Patient with Ochronotic Arthropathy by Zhibo Ying, Jufeng Lu, Xucheng Wang, Qinghe Zeng, Hongting Jin, Bangjian He

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A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis by Prasanth Y.M., Mohammed Ashraf, Venkatesh B.M., Sharol Menezes, Abraham Mohan

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One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype by Lianhu Yu, Dan Li, Ting Zhang, Yongmei Xiao, Yizhong Wang, Ting Ge

Subjects: “…Autosomal recessive disorder…”
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Unmasking the silent culprit: recurrent exercise-induced acute kidney injury in a Chinese adolescent with renal hypouricemia by Yuan Gao, Lu Xu, Mingming Wei, Xiaohan Qu, Tongtong Pan, Xinjian Li

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Exploring the potential of trientine tetrahydrochloride in the treatment of Wilson disease by Nikita Sharma, Debashree Debasish Das, Pooja A Chawla

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Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease by Ting Ge, Xinyue Zhang, Yongmei Xiao, Yizhong Wang, Ting Zhang

Subjects: “…Autosomal recessive disorder…”
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Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II by Ying Xue, Yun Zhou, Keqin Zhang, Ling Li, Abudurexiti Kayoumu, Liye Chen, Yuhui Wang, Zhiqiang Lu

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Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kid... by Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi

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Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY by Janene Kuan, Janene Kuan, Ashleigh Hansen, Ashleigh Hansen, Hua Wang

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Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A by Wanjun Feng, Yanyan Cao, Ruolin Ren, Xiaohui Yang, Chunyan Cao, Hongwei Jiang, Ganqin Du

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SNPs ANALYSIS AS A TOOL IN MOLECULAR GENETICS DIAGNOSTICS by Dewi Rusnita

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Influence of Npc1 genotype on the toxicity of hydroxypropyl-β-cyclodextrin, a potentially therapeutic agent, in Niemann–Pick Type C disease models by Yuta Tanaka, Yoichi Ishitsuka, Yusei Yamada, Yuki Kondo, Toru Takeo, Naomi Nakagata, Taishi Higashi, Keiichi Motoyama, Hidetoshi Arima, Muneaki Matsuo, Katsumi Higaki, Kousaku Ohno, Tetsumi Irie

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In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) bein... by Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman

Subjects: “…autosomal recessive disorder…”
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Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders by Cristina Skrypnyk, Cristina Skrypnyk, Rawan AlHarmi

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Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study by Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M

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