NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility

Clinical Genetics

Volumn 85, Issue 4, 2014, Pages 371-375

  Alazami, A M ^a   Alshammari, M J ^a,b   Baig, M ^b   Salih, M A ^b   Hassan, H H ^b   Alkuraya, F S ^a,b,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Ciliopathy; Nephrocystin; Nephronophthisis; Sperm

Indexed keywords

ADOLESCENT; ANIMAL EXPERIMENT; ANIMAL MODEL; APRAXIA; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CEREBELLO OCULO RENAL SYNDROME; DISEASE SEVERITY; END STAGE RENAL DISEASE; EXOME; FAMILY HISTORY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; MALE; MALE INFERTILITY; MOUSE; NEPHRONOPHTHISIS; NONHUMAN; NPHP4 GENE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEMEN ANALYSIS; SPERMATOZOON COUNT; SPERMATOZOON HEAD; SPERMATOZOON MOTILITY; SPERMATOZOON TAIL; CEREBELLUM DISEASE; COGAN SYNDROME; GENETICS; KIDNEY POLYCYSTIC DISEASE; MUTATION; PEDIGREE; SYNDROME;

NPHP4 PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; CEREBELLAR DISEASES; COGAN SYNDROME; HOMOZYGOTE; HUMANS; INFERTILITY, MALE; KIDNEY DISEASES, CYSTIC; MALE; MUTATION; PEDIGREE; PROTEINS; SYNDROME;

EID: 84895771837     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12160     Document Type: Article

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