Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.

Gilbert, Rodney D; Sukhtankar, Priya; Lachlan, Katherine; Fowler, Darren J

Gilbert, Rodney D; Sukhtankar, Priya; Lachlan, Katherine; Fowler, Darren J.

Affiliation

Gilbert RD; Regional Paediatric Nephro-Urology Unit, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, UK, rodney.gilbert@uhs.nhs.uk.

Pediatr Nephrol ; 28(11): 2217-20, 2013 Nov.

Article in En | MEDLINE | ID: mdl-23624871

Subject(s)

Polycystic Kidney, Autosomal Recessive/pathology; TRPP Cation Channels/deficiency; TRPP Cation Channels/genetics; Acidosis, Respiratory/etiology; Adult; Apnea/etiology; Cesarean Section; Fatal Outcome; Female; Humans; Infant, Newborn; Kidney Function Tests; Male; Mutation/genetics; Nephrectomy; Nucleic Acid Hybridization; Pre-Eclampsia; Pregnancy; Prenatal Diagnosis; Pulmonary Gas Exchange; Sepsis/etiology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polycystic Kidney, Autosomal Recessive / TRPP Cation Channels Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Pediatr Nephrol Journal subject: NEFROLOGIA / PEDIATRIA Year: 2013 Document type: Article Country of publication: Germany

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