Which of the following is autosomal dominant in inheritance?
Autosomal Dominant (A Very DOMINANT Hereditary Family ) Achondroplasia/ADPKD Von Hipple Lindau disease Dystrophia myotonica Osteogenesis imperfecta Marfan Syndrome Intermittent porphyria NF 1(von reckinghausen disease) Achondroplasia NF 2 Tuberous Sclerosis Huntington Disease Familial hypercholesterolemia Autosomal Recessive (ABCDEFGH'S) Albinism, Ataxia Telengiactasia, Alkaptonuri Beta thalassemia Cystic Fibrosis Dubin Johnson Emphysema(alpha 1 antitrypsin deficiency) Friedreich Ataxia Galactosemia Hemochromatosis Sickle cell anemia Wiskott Aldrich : X linked Recessive Defects in hormones and signal transduction proteins producing abnormal proliferaion oor maturation of osteoblasts, osteoclasts or chondrocytes Achondroplasia FGFR3 Receptor Sho stature, rhizomelic, shoening of limbs, frontal bossing, midface deficiency Hypochondroplasia FGFR3 Receptor Dispropoionately sho stature, micromelia, relative macrocephaly
Sickle cell disease
Achondroplasia
Hemochromatosis
Wiskott Aldrich syndrome
NEET 2019