Jarcho–Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold–Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho–Levin syndrome, Arnold–Chiari malformation, and meningmyelocele. All cases of Jarcho–Levin syndrome had Arnold–Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6
cDanlos syndrome (EDS VI [MIM 225400]) is characterized at birth by severe muscular hypotonia (requi...
We sought to determine the nature of the molecular defect causing Menkes ’ syndrome in the Chinese p...
SummaryNeural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk fact...
WOS: 000355932100001PubMed ID: 25792257Jarcho-Levin syndrome (JLS) is a congenital disorder consisti...
Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic d...
Full list of author information is available at the end of the articleBackground MKS is an autosomal...
Pallister–Killian syndrome is a rare, multi-system developmen-tal diagnosis typically caused by tetr...
Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused ...
Schinzel–Giedion syndrome is a rare autosomal dominant dis-order comprising postnatal growth failure...
The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome character-is...
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synt...
neural tube defects [1]. Our sample consisted of consecutive patients evaluated by a clinical geneti...
The article provides literature data and description of the clinical case of CHARGE syndrome with an...
Objective Approximately 5–10 % of preschool age children are considered developmentally disabled. Br...
Background: Neural tube defects have a complex and imperfectly understood etiology involving both ge...
cDanlos syndrome (EDS VI [MIM 225400]) is characterized at birth by severe muscular hypotonia (requi...
We sought to determine the nature of the molecular defect causing Menkes ’ syndrome in the Chinese p...
SummaryNeural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk fact...
WOS: 000355932100001PubMed ID: 25792257Jarcho-Levin syndrome (JLS) is a congenital disorder consisti...
Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic d...
Full list of author information is available at the end of the articleBackground MKS is an autosomal...
Pallister–Killian syndrome is a rare, multi-system developmen-tal diagnosis typically caused by tetr...
Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused ...
Schinzel–Giedion syndrome is a rare autosomal dominant dis-order comprising postnatal growth failure...
The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome character-is...
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synt...
neural tube defects [1]. Our sample consisted of consecutive patients evaluated by a clinical geneti...
The article provides literature data and description of the clinical case of CHARGE syndrome with an...
Objective Approximately 5–10 % of preschool age children are considered developmentally disabled. Br...
Background: Neural tube defects have a complex and imperfectly understood etiology involving both ge...
cDanlos syndrome (EDS VI [MIM 225400]) is characterized at birth by severe muscular hypotonia (requi...
We sought to determine the nature of the molecular defect causing Menkes ’ syndrome in the Chinese p...
SummaryNeural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk fact...