2q37 Deletion Syndrome Latest Advances

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

Journal: Prenatal diagnosis

Published: May 06, 2024

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Journal: Human mutation

Published: June 24, 2021

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

Journal: American journal of medical genetics. Part A

Published: June 18, 2021

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

Journal: American journal of medical genetics. Part A

Published: May 26, 2021

Extremity anomalies associated with Robinow syndrome.

Journal: American journal of medical genetics. Part A

Published: April 14, 2020

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

Journal: American journal of medical genetics. Part A

Published: November 18, 2008

Brachy-syndactyly caused by loss of Sfrp2 function.

Journal: Journal of cellular physiology

Published: May 01, 2008

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Journal: American journal of medical genetics. Part A

Published: January 30, 2007

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

Journal: American journal of medical genetics. Part A

Published: June 14, 2005

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

Journal: Human mutation

Published: June 20, 2003

Robinow syndrome.

Journal: Journal of medical genetics

Published: May 16, 2002

A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly.

Journal: Pediatric radiology

Published: February 24, 2001

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Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

Extremity anomalies associated with Robinow syndrome.

Extremity anomalies associated with Robinow syndrome.

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

Brachy-syndactyly caused by loss of Sfrp2 function.

Brachy-syndactyly caused by loss of Sfrp2 function.

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

Robinow syndrome.

Robinow syndrome.

A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly.

A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly.