Add to ORKGHuman ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association ...
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by m...
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary ...
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary ...
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary ...
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We no...
The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by pri...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by m...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for...
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by m...
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary ...
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary ...
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary ...
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We no...
The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by pri...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by m...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for...
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for...
Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy w...
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by m...
