Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI (2004) Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A 130(1):55–72

Article  Google Scholar 

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, Van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C (2008) Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319(5864):816–819

Article  PubMed  CAS  Google Scholar 

Pachajoa H, Ruiz-Botero F, Isaza C (2014) A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. J Med Case Reports 8:1–5

Article  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA (2010) The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297–1303

Article  PubMed  PubMed Central  CAS  Google Scholar 

Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinforma Oxf Engl 25(14):1754–1760

Article  CAS  Google Scholar 

Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164

Article  PubMed  PubMed Central  Google Scholar 

Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, Jang W (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44(D1):D862-868

Article  PubMed  CAS  Google Scholar 

Amberger J, Bocchini CA, Scott AF, Hamosh A (2009) McKusick’s online Mendelian inheritance in man (OMIM®). Nucleic Acids Res 37:D793-796

Article  PubMed  CAS  Google Scholar 

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN (2017) The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665–677

Article  PubMed  PubMed Central  CAS  Google Scholar 

Fokkema IFAC, Taschner PEM, Schaafsma GCP, Celli J, Laros JFJ, den Dunnen JT (2011) LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 32(5):557–563

Article  PubMed  CAS  Google Scholar 

Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D et al (2009) DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet 84(4):524–533

Article  PubMed  PubMed Central  CAS  Google Scholar 

Mottaz A, David FPA, Veuthey AL, Yip YL (2010) Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar. Bioinforma Oxf Engl 26(6):851–852

Article  CAS  Google Scholar 

Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM et al (2015) 1000 genomes project consortium. A global reference for human genetic variation. Nature 526(7571):68–74

PubMed  Google Scholar 

Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD et al (2020) Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun 11(1):2539

Article  PubMed  PubMed Central  CAS  Google Scholar 

Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM et al (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29(1):308–311

Article  PubMed  PubMed Central  CAS  Google Scholar 

Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R et al (2021) Sequencing of 53,831 diverse genomes from the NHLBI TOPMed program. Nature 590(7845):290–299

Article  PubMed  PubMed Central  CAS  Google Scholar 

Wall JD (2019) GenomeAsia100K consortium. The GenomeAsia 100 K project enables genetic discoveries across Asia. Nature 576(7785):106–111

Article  CAS  Google Scholar 

Vaser R, Adusumalli S, Leng SN, Sikic M, Ng PC (2016) SIFT missense predictions for genomes. Nat Protoc 11(1):1–9

Article  PubMed  CAS  Google Scholar 

Chun S, Fay JC (2009) Identification of deleterious mutations within three human genomes. Genome Res 19(9):1553–1561

Article  PubMed  PubMed Central  CAS  Google Scholar 

Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet 76:7–20

Google Scholar 

Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11(4):361–362

Article  PubMed  CAS  Google Scholar 

Capriotti E, Fariselli P, Casadio R (2005) I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 33:W306–W310

Article  PubMed  PubMed Central  CAS  Google Scholar 

de Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A et al (2023) SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Hum Genomics 17(1):7

Article  PubMed  PubMed Central  Google Scholar 

Rigsby RE, Parker AB (2016) Using the PyMOL application to reinforce visual understanding of protein structure. Biochem Mol Biol Educ Bimon Publ Int Union Biochem Mol Biol 44(5):433–437

Article  CAS  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med Off J Am Coll Med Genet 17(5):405–424

Google Scholar 

Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF et al (2020) Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. Eur J Med Genet 63(2):103643

Article  PubMed  Google Scholar 

Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME et al (2012) Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A 158A(11):2719–2725

Article  PubMed  Google Scholar 

Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YCL et al (2011) Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes 60(3):925–935

Article  PubMed  PubMed Central  CAS  Google Scholar 

Majewski F, Ranke M, Schinzel A, Opitz JM (1982) Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet 12(1):23–35

Article  PubMed  CAS  Google Scholar 

Sabir AH, Morley E, Sheikh J, Calder AD, Beleza-Meireles A, Cheung MS et al (2021) Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era. BMC Med Genomics 14:148

Article  PubMed  PubMed Central  Google Scholar 

Ghosh S, Garg M, Gupta S, Choudhary M, Chandra M (2020) Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene. Oral Surg Oral Med Oral Pathol Oral Radiol 129(2):e204–e211

Article  PubMed  Google Scholar 

Agarwal D, Kochar IPS, Gupta VB, Menon K (2023) Genetic syndromes and skeletal dysplasia associated with short stature – a case series. Apollo Med 20(2):93

Article  Google Scholar