Brachydactyly Type B Latest Advances

Brachydactyly type B: a rare case report and literature review.

Journal: Journal of surgical case reports

Published: March 30, 2024

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

Journal: Molecular genetics & genomic medicine

Published: March 18, 2024

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish.

Journal: Development (Cambridge, England)

Published: September 02, 2022

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.

Journal: European journal of human genetics : EJHG

Published: April 28, 2022

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

Journal: BMC pediatrics

Published: April 04, 2022

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).

Journal: Heart rhythm

Published: August 23, 2021

Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.

Journal: eLife

Published: July 06, 2021

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: April 29, 2021

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

Journal: American journal of medical genetics. Part A

Published: August 02, 2019

A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.

Journal: EBioMedicine

Published: April 22, 2019

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Journal: American journal of medical genetics. Part A

Published: July 21, 2017

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

Journal: Journal of the Endocrine Society

Published: June 22, 2017

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Brachydactyly type B: a rare case report and literature review.

Brachydactyly type B: a rare case report and literature review.

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish.

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish.

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).

Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.

Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling.

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.

A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.