New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.

American journal of medical genetics. Part A

Volumn 152 A, Issue 12, 2010, Pages 3036-3042

  Czarny Ratajczak, Malwina ^a   Bieganski, Tadeusz ^b   Rogala, Piotr ^b   Glowacki, Maciej ^b   Trzeciak, Tomasz ^b   Kozlowski, Kazimierz ^b  

^a TULANE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANION TRANSPORT PROTEIN; PROTEOGLYCAN; SLC26A2 PROTEIN, HUMAN; SULFATE;

ADULT; ARTICLE; BONE DYSPLASIA; CHONDRODYSPLASIA; GENETICS; HETEROZYGOTE; HUMAN; MALE; METABOLISM; MUTATION; NUCLEAR FAMILY; PHENOTYPE; RADIOGRAPHY; RECESSIVE GENE; TRANSPORT AT THE CELLULAR LEVEL;

ADULT; ANION TRANSPORT PROTEINS; BIOLOGICAL TRANSPORT; BONE DISEASES, DEVELOPMENTAL; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MALE; MUTATION; NUCLEAR FAMILY; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROTEOGLYCANS; SULFATES;

MLCS; MLOWN;

EID: 79952540979     PISSN: None     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33707     Document Type: Article

References (0)