Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

by L. Swan, G. Gole, V. Sabesan, J. Cardinal, D. Coman
Published 2018-01-01

Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia

by Leema Reddy Peddareddygari, Raji P. Grewal
Published 2015-01-01

Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1

by Sabrina C. Burn, Kali Swift, Maria Palmquist
Published 2018-01-01

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

by Noura Biha, S. M. Ghaber, M. M. Hacen, Corinne Collet
Published 2016-01-01

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease

by J. M. Ramirez, F. A. Rodríguez, M. I. Echeverría, A. L. Vargas, A. E. Calderón, R. M. Miatello, N. F. Renna
Published 2019-01-01

A Case of Acute Myeloid Leukemia with a Previously Unreported Translocation (14; 15) (q32; q13)

by Mohamad Khawandanah, Bradley Gehrs, Shibo Li, Jennifer Holter Chakrabarty, Mohamad Cherry
Published 2014-01-01

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

by Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, Sikander Ailawadhi
Published 2016-01-01

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

by Ivanka Dimova, Ivo Kremensky
Published 2018-01-01

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

by Nirmala D. Sirisena, U. Kalpani S. Wijetunge, Ramya de Silva, Vajira H. W. Dissanayake
Published 2013-01-01

Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes

by Attila Szvetko, Nicole Martin, Chris Joy, Andrea Hayward, Bob Watson, Andrew Cary, Stephen Withers
Published 2012-01-01

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

by Sébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, Tony Kayembe Kitenge, Leon Kabamba Ngombe, Prosper Kalenga Muenze, Prosper Lukusa Tshilobo, François Tshilombo Katombe, Célestin Banza Lubaba Nkulu, Koenraad Devriendt
Published 2014-01-01

Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

by M. Abreu-González, C. García-Delgado, A. Cervantes, A. Aparicio-Onofre, R. Guevara-Yáñez, R. Sánchez-Urbina, M. P. Gallegos-Arreola, A. Luna-Angulo, F. J. Estrada, V. F. Morán-Barroso
Published 2013-01-01

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

by Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez
Published 2017-01-01

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

by Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain
Published 2013-01-01

A Newborn with Panhypopituitarism and Seizures

by Trupti Kale, Rachit Patil, Ramesh Pandit
Published 2017-01-01

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

by Tieneka M. Baker, Erica L. Sturm, Clesson E. Turner, Scott M. Petersen
Published 2013-01-01

First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

by Lindsay B. Henderson, Virginia L. Corson, Daniel O. Saul, Cynthia Anderson, Sarah Millard, Denise A. S. Batista, Karin J. Blakemore, Cheryl DeScipio
Published 2013-01-01

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

by Salma M. Wakil, Dorota Monies, Samya Hagos, Fahad Al-Ajlan, Josef Finsterer, Aisha Al Qahtani, Khushnooda Ramzan, Rawan Al Humaidy, Mohamed A. Al-Muhaizea, Brian Meyer, Saeed A. Bohlega
Published 2018-01-01

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

by Yuan Wei, Xuefeng Gao, Liying Yan, Fang Xu, Peining Li, Yangyu Zhao
Published 2012-01-01

An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

by J. Carter, H. Brittain, D. Morrogh, N. Lench, J. J. Waters
Published 2017-01-01