Disease: Short rib-polydactyly syndrome- Beemer type
- A new short rib syndrome: report of two cases
- Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
- Beemer-Langer type short rib-polydactyly syndrome: report of two cases
- De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes
- Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report
- Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases
- Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally
- Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs
- In reply to "Short-rib syndrome Beemer-Langer type, a short history"
- Lethal short rib syndrome of the Beemer type without polydactyly
- Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
- Mutations in IFT80 cause SRPS Type IV. Report of two families and review
- NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
- New findings in short rib syndrome
- Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography
- Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer
- Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome
- Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome
- Short rib syndrome Beemer-Langer type, a short history
- Short rib syndrome--Beemer type in sibs
- Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly
- Short rib-polydactyly syndrome: a case report
- Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case
- Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study
- Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)