Add to ORKGBackground: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare x-linked recessive disorder first described in 1952. This syndrome is characterized by ocular involvement, mental retardation and kidney disease. The causative gene is OCRL1. Survival rarely exceeds 40 years. Case Presentation: A 13-year-old boy was referred because of short stature. In physical examination his height was 108.2 cm. He had poor growth, psychomotor retardation, severe hypotonia, congenital cataract which was operated on earlier in life, searching nystagmus, anti social behavior and used foul language. He had been on treatment for renal tubular acidosis (Fanconi syndrome) since 8 month of age. Conclusion: The possibility of OCRL should be considered in bo...
Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically...
International audienceThe oculo-cerebro-renal syndrome of Lowe is a rare X-linked disorder, caused b...
SummaryThe oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major ...
Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which e...
We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and g...
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a rare X-linked recessive metabolic ...
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by th...
PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It...
BACKGROUND: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disord...
BACKGROUND The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder...
Oculocerebrorenal or Lowe Syndrome (OMIM #309000) is an X-linked recessive condition characterized b...
Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. ...
Lowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, ...
Lowe syndrome is a multisystem disorder characterized by anomalies of the eye, the nervous system, a...
The early diagnosis of Lowe’s syndrome can be difficult. Urinary excretion of retinol binding protei...
Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically...
International audienceThe oculo-cerebro-renal syndrome of Lowe is a rare X-linked disorder, caused b...
SummaryThe oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major ...
Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which e...
We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and g...
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a rare X-linked recessive metabolic ...
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by th...
PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It...
BACKGROUND: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disord...
BACKGROUND The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder...
Oculocerebrorenal or Lowe Syndrome (OMIM #309000) is an X-linked recessive condition characterized b...
Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. ...
Lowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, ...
Lowe syndrome is a multisystem disorder characterized by anomalies of the eye, the nervous system, a...
The early diagnosis of Lowe’s syndrome can be difficult. Urinary excretion of retinol binding protei...
Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically...
International audienceThe oculo-cerebro-renal syndrome of Lowe is a rare X-linked disorder, caused b...
SummaryThe oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by major ...