A "new" bone dysplasia with autosomal recessive inheritance
Temtamy, S.A.; Meligy, R.E.; Osman, N.M.; Meguid, M.S.; Salem, S.
Birth Defects Original Article Series 10(10): 165-170
1974
ISSN/ISBN: 0547-6844 PMID: 4462629 Document Number: 77088
Document emailed within 1 workday
Related Documents
Knoblauch, H.; Urban, M.; Tinschert, S. 1999: Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters Genetic Counseling 10(3): 315-320Alvarez-Arratia, M.C.; Muñoz, A.; Martínez Camacho, S.; Buendía Hernández, A.; Attie, F.; Fragoso, R.; García Cruz, D.; Cantú, J.M. 1992: Recessive autosomal inheritance in Marfan syndrome Archivos del Instituto de Cardiologia de Mexico 62(4): 379-382
De Bleecker, J.; De Reuck, J.; Martin, J.J.; Ceuterick, C.; Carton, D.; Leroy, J. 1990: Autosomal recessive inheritance of polymicrogyria and dermatomyositis with paracrystalline inclusions Clinical Neuropathology 9(6): 299-304
Temtamy, S.A.; Shoukry, A.S.; Raafat, M.; Mihareb, S. 1975: Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance Birth Defects Original Article Series 11(2): 104-108
Lokman, M.N.; George, R.; Sukumaran, S.; Nasuruddin, B.A. 1988: Common variable immunodeficiency (hypogammaglobulinemia) with an autosomal recessive pattern of inheritance Medical Journal of Malaysia 43(3): 237-242
Cantú, J.M.; Hernández, A.; Ramírez, J.; Bernal, M.; Rubio, G.; Urrusti, J.; Franco-Vázquez, S. 1975: Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder Birth Defects Original Article Series 11(5): 91-98
Passarge, E.; Fries, E. 1977: Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote Birth Defects Original Article Series 13(3c): 95-100
Hockey, A.; Knowles, S.; Davies, D.; Carey, W.; Hurst, J.; Goldblatt, J. 1993: Glutaric aciduria type II, an unusual cause of prenatal polycystic kidneys: report of prenatal diagnosis and confirmation of autosomal recessive inheritance Birth Defects Original Article Series 29(1): 373-382
Hordijk, R.; Van de Logt, F.; Houtman, W.A.; Van Essen, A.J. 1996: Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance Genetic Counseling 7(2): 113-122
Maximilian, C.; Ioan, D.M.; Fryns, J.P. 1992: A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype? Genetic Counseling 3(2): 115-118
Pfeiffer, R.A.; Verbeck, C. 1973: Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance Zeitschrift für Kinderheilkunde 115(3): 235-244
Finlay, A.Y. 1988: Major autosomal recessive ichthyoses Seminars in Dermatology 7(1): 26-36
Alonso, R.A.; Hernández, A.; Díaz, P.; Cantú, J.M. 1982: An autosomal recessive form of hemimelia in dogs Veterinary Record 110(6): 128-129
Frijns, C.J.; Wouda, E.J.; Linssen, W.H.; Snijders, C.J. 1994: 2 patients with autosomal recessive generalized myotonia Nederlands Tijdschrift Voor Geneeskunde 138(14): 726-728
Danks, D.M.; Mayne, V.; Kozlowski, K. 1974: A precocious, autosomal recessive type of osteodysplasty Birth Defects Original Article Series 10(12): 124-127
Best, R.G.; Mathis, J.N.; Shah, K.; Golden, R. 1994: Cystic fibrosis (CF) is an autosomal recessive genetic disease Journal of the South Carolina Medical Association 90(2): 78-79
Inose, M.; Higuchi, I. 2002: Autosomal recessive chronic progressive external ophthalmoplegia Nihon Rinsho. Japanese Journal of Clinical Medicine 60(Suppl 4): 455-457
Matsumura, K.; Shimizu, T. 1995: Severe childhood autosomal recessive muscular dystrophy Rinsho Shinkeigaku 35(12): 1422-1424
Kinnon, C.; Jones, A. 1997: Genetics of inherited immunodeficiencies II: autosomal recessive disorders British Journal of Hospital Medicine 57(9): 424-426
Zara, F.; De Falco, F.A. 2005: Autosomal recessive benign myoclonic epilepsy of infancy Advances in Neurology 95: 139-145