A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report by Pachajoa H, Giraldo-Ocampo S

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A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity by Giraldo-Ocampo S, Pacheco-Orozco RA, Pachajoa H

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Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association by Pachajoa H, Perafan L, Ramos I, Escobar ÁJ

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Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1 by Perafan-Valdes L, Giraldo-Ocampo S, Lores J, Pachajoa H

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Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies by Pachajoa H, Gomez-Pineda E, Giraldo-Ocampo S, Lores J

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A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report by Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H

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A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome by Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H

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Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis by Vanegas S, Sua LF, López-Tenorio J, Ramírez-Montaño D, Pachajoa H

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Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum] by Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D

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Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype by Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D

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Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report by Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H

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The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report by Candelo E, Estrada-Mesa MA, Jaramillo A, Martinez-Cajas CH, Osorio JC, Pachajoa H

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Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization by Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF

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Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA by Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM

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PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country by Forero-Delgadillo JM, Cleves D, Ochoa V, Londoño-Correa H, Restrepo JM, Nastasi-Catanese JA, Pachajoa H

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The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas by Rodriguez-Rojas LX, Candelo E, Pachajoa H, Garcia-Robledo JE, Nastasi-Catanese JA, Olave-Rodriguez JA, Zambrano AR

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First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities by Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H

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Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations by Ciro Acosta S, Díaz-Ordóñez L, Gutierrez-Medina JD, Silva-Cuero YK, Arango-Vélez LG, García-Trujillo AO, Pachajoa H

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A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis by Pinilla-Monsalve GD, Lores J, Pachajoa H, López-Ponce de León JD, López A, Rodríguez-Rojas LX, Nastasi-Catanese JA

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Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole by Díaz-Ordóñez L, Ramírez-Montaño D, Candelo E, González-Restrepo C, Silva-Peña S, Rojas CA, Sepulveda Copete M, Echavarria HR, Pachajoa H

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