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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 908 - 914
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I... 
collagen | osteogenesis imperfecta | WNT1 | ptosis | WNT1 MUTATIONS | MOUSE | GENETICS & HEREDITY | Medicine, Experimental | Osteogenesis imperfecta | Osteoporosis | Blepharoptosis | Medical research | Collagen | Vertebrae | Compression | Procollagen | Connective tissue diseases | Bone mass | Fractures | Osteoblastogenesis | Scoliosis | Mineralization | Mutation | Osteogenesis
Journal Article
Neuro-Ophthalmology, ISSN 0165-8107, 2018, pp. 1 - 3
Journal Article
Modern Pathology, ISSN 0893-3952, 07/2018, Volume 31, Issue 7, pp. 1116 - 1130
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 7, pp. 888 - 895
Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most... 
Cutis laxa | Metabolic | Neurologic | Mutation | Inborn errors of glycosylation | Mitochondrial function | mitochondrial function | cutis laxa | BIOCHEMISTRY & MOLECULAR BIOLOGY | PYCR1 MUTATIONS | TRAFFICKING | inborn errors of glycosylation | GLYCOSYLATION | neurologic | PHENOTYPIC SPECTRUM | P5CS | mutation | GENE | GENETICS & HEREDITY | MISSENSE MUTATION | DUPLICATION | ENCODING DELTA-PYRROLINE-5-CARBOXYLATE SYNTHASE | metabolic | BARSY-SYNDROME | Agenesis of Corpus Callosum - diagnosis | Prospective Studies | Pyrroline Carboxylate Reductases - metabolism | Humans | Child, Preschool | Epilepsy - metabolism | Male | Mitochondrial Proton-Translocating ATPases - genetics | Guanine Nucleotide Exchange Factors - metabolism | Agenesis of Corpus Callosum - genetics | Epilepsy - genetics | Female | Aldehyde Dehydrogenase - metabolism | Child | Cutis Laxa - metabolism | Agenesis of Corpus Callosum - metabolism | Guanine Nucleotide Exchange Factors - genetics | Aldehyde Dehydrogenase - genetics | Cutis Laxa - genetics | Glycosylation | Agenesis of Corpus Callosum - pathology | Mitochondrial Proton-Translocating ATPases - metabolism | Pyrroline Carboxylate Reductases - genetics | Cutis Laxa - diagnosis | Epilepsy - diagnosis | Carrier Proteins - genetics | Carrier Proteins - metabolism | Adolescent | Cutis Laxa - pathology | Epilepsy - pathology | Hypoplasia | Pediatrics | Genetic disorders | Migration | Epilepsy | Central nervous system | Nervous system | Metabolism | Substantia alba | Mental retardation | Patients | Corpus callosum | Genetic screening | Defects | Mitochondria | Hospitals | Genetics | Skin | Diagnosis | Children
Journal Article
Nature genetics, ISSN 1061-4036, 9/2017, Volume 49, Issue 9, pp. 1403 - 1407
The more than 1.5 billion people who live in South Asia are correctly viewed not as a single large population, but as many small endogamous groups. We... 
Journal Article
Indian Journal of Endocrinology and Metabolism, ISSN 2230-8210, 05/2015, Volume 19, Issue 3, pp. 436 - 437
  The probable reasons for this increased prevalence could be due, as discussed in the article, to improved testing strategies, increasing numbers of preterm... 
Hypothyroidism | Letters to Editor
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 62 - 72
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2015, Volume 4, Issue C, pp. 53 - 61
Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive inborn error of metabolism caused by mutations in the arylsulfatase B gene ( ) and consequent... 
Arylsulfatase B (ARSB) | Mutations | Inborn error of metabolism (IEM) | Maroteaux–Lamy syndrome | Mucopolysaccharidosis VI (MPS VI) | Active site | Lysosomal enzyme | Lysosomal storage disorder (LSD) | India
Journal Article
Journal of Fetal Medicine, ISSN 2348-1153, 9/2018, Volume 5, Issue 3, pp. 151 - 154
Idiopathic arterial calcification of infancy is a rare autosomal recessive disease, characterized by deposition of calcium along the internal elastic membrane... 
Obstetrics/Perinatology/Midwifery | Medicine & Public Health | Diagnostic Radiology | Calcium | Idiopathic arterial calcification | Maternal and Child Health | Fetus | Ultrasound | Reproductive Medicine
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2017, Volume 173, Issue 3, pp. 588 - 595
Journal Article
by Hernández-Ramírez, Laura C and Gabrovska, Plamena and Dénes, Judit and Stals, Karen and Trivellin, Giampaolo and Tilley, Daniel and Ferraù, Francesco and Evanson, Jane and Ellard, Sian and Grossman, Ashley B and Roncaroli, Federico and Gadelha, Mônica R and Korbonits, Márta and Agha, Amar and Akker, Scott A and Aflorei, Elena D and Alföldi, Sándor and Arlt, Wiebke and Atkinson, Brew and Aulinas-Masó, Anna and Aylwin, Simon J and Backeljauw, Philippe F and Badiu, Corin and Baldeweg, Stephanie and Bano, Gul and Barkan, Ariel and Barwell, Julian and Bernal-González, Carmen and Besser, G. Michael and Bevan, John S and Blair, Jo and Bouloux, Pierre and Bradley, Lisa and Buchfelder, Michael and Cakir, Mehtap and Canham, Natalie and Carroll, Paul and Chahal, Harvinder S and Cheetham, Tim and Chentli, Farida and Clayton, Richard N and Cohen, Mark and Cole, Trevor and Courtney, Hamish and Crowne, Elizabeth and Cuthbertson, Daniel and Dal, Jacob and Dalantaeva, Nadezhda and Daousi, Christina and Darzy, Ken and Dattani, Mehul and Davies, Justin H and Davis, Julian and De Castro, Margaret and De Marinis, Laura and Drake, William and Dutta, Pinaki and Dzeranova, Larisa and Edén-Engström, Britt and Eeles, Rosalind and Elfving, Maria and Elston, Marianne and Emmerson, Louise and Fersht, Naomi and Fica, Simona and Fischli, Stefan and Flanagan, Daniel and Fleseriu, Maria and Freda, Pamela U and Friedman, Theodore and Frohman, Lawrence A and Gallego, Patricia and Gevers, Evelien and Gláz, Edit and Goldman, James A and Goldstone, Anthony P and Goth, Miklos and Greenhalgh, Lynn and Grieve, Joan and Guitelman, Mirtha and Gürlek, Alper and Gurnell, Mark and Horvath, Katalin and Howlett, Trevor A and Höybye, Charlotte and Hunter, Steven and Iacovazzo, Donato and Igaz, Peter and Inder, Warrick J and Iwata, Takeo and Izatt, Louise and Jagadeesh, Sujatha and Kaltsas, Gregory and Kaplan, Felicity and Karavitaki, Niki and Kastelan, Darko and Katz, Michelle and Kearney, Tara and Khoo, Bernard and Kiraly-Borri, Cathy and ... and Int FIPA Consortium and International FIPA Consortium
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 09/2015, Volume 100, Issue 9, pp. E1242 - E1254
Journal Article
National Medical Journal of India, ISSN 0970-258X, 01/2013, Volume 26, Issue 1, pp. 29 - 30
Blotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated.... 
METABOLISM | MEDICINE, GENERAL & INTERNAL | Biotinidase Deficiency - diagnosis | Ichthyosis - etiology | Humans | Alopecia - etiology | Fatal Outcome | Seizures - etiology | Female | Biotinidase Deficiency - complications | Biotinidase Deficiency - genetics | Infant, Newborn
Journal Article