Research & Literature

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, et al.

Human molecular genetics 2015; (24(20)):5845-54 doi:10.1093/hmg/ddv305.

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Duker AL, Eldridge G, Braverman NE, Bober MB

American journal of medical genetics. Part A 2016; (170A(1)):270-2 doi:10.1002/ajmg.a.37404.

Rare Case of Rhizomelic Chondrodysplasia Punctata.

Mahale Y, Kadu VV, Chaudhari A

Journal of orthopaedic case reports 2015; (5(3)):38-40 doi:10.13107/jocr.2250-0685.303.

Maternal Anxiety and Children's Laboratory Pain: The Mediating Role of Solicitousness.

Evans S, Payne LA, Seidman L, et al.

Children (Basel, Switzerland) 2016; (3(2)).

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, et al.

American journal of medical genetics. Part A 2017; (173(1)):108-113 doi:10.1002/ajmg.a.37961.

Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.

Muratoğlu Şahin N, Bilici ME, Kurnaz E, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(8)):889-892.

Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.

Landino J, Jnah AJ, Newberry DM, Iben SC

The Journal of perinatal & neonatal nursing 2017; (31(4)):350-357 doi:10.1097/JPN.0000000000000282.

PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA.

Erdogdu E, Dilek N, Arisoy R, et al.

Genetic counseling (Geneva, Switzerland) 2016; (27(4)):533-535.

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

Subhashini P, Jaya Krishna S, Usha Rani G, et al.

Journal of biochemistry 2019; (165(1)):67-73 doi:10.1093/jb/mvy085.

Palliative Care for Children with Central Nervous System Malignancies.

Baenziger PH, Moody K

Bioengineering (Basel, Switzerland) 2018; (5(4)) doi:10.3390/bioengineering5040085.

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

Abousamra O, Kandula V, Duker AL, et al.

Journal of pediatric orthopedics 2019; (39(9)):e680-e686 doi:10.1097/BPO.0000000000001014.

The type-2 peroxisomal targeting signal.

Kunze M

Biochimica et biophysica acta. Molecular cell research 2020; (1867(2)):118609 doi:10.1016/j.bbamcr.2019.118609.

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

Duker AL, Niiler T, Kinderman D, et al.

American journal of medical genetics. Part A 2020; (182(3)):579-583 doi:10.1002/ajmg.a.61413.

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.

Fallatah W, Schouten M, Yergeau C, et al.

Journal of inherited metabolic disease 2021; (44(4)):1021-1038 doi:10.1002/jimd.12349.

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.

Cordisco A, Pelo E, Di Tommaso M, Biagiotti R

Molecular genetics & genomic medicine 2021; (9(8)):e1733 doi:10.1002/mgg3.1733.

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata.

Luisman T, Smith T, Ritchie S, Malone KE

Orphanet journal of rare diseases 2021; (16(1)):300 doi:10.1186/s13023-021-01889-z.

A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report.

Shawli AM, Nazer AT, Khayyat Y, et al.

Cureus 2021; (13(12)):e20543 doi:10.7759/cureus.20543.

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.

İli EG, Gezdirici A, Di Pietro E, et al.

American journal of medical genetics. Part A 2022; (188(11)):3229-3235 doi:10.1002/ajmg.a.62959.

A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.

Javaid HA, Ashraf N, Mostafa R, Shehata N

Cureus 2022; (14(11)):e31702 doi:10.7759/cureus.31702.

Coping With 'Scanxiety': Within-Person Processes in Lung Cancer.

Dunsmore VJ, Neupert SD

Psychological reports 2025; (128(2)):702-722 doi:10.1177/00332941231164336.

Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene.

Sayed J, Gamal A, Theyab A, et al.

Clinical case reports 2023; (11(6)):e7504 doi:10.1002/ccr3.7504.

Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case.

Patel NP, Youngblood MW, LoPresti MA, Alden TD

Journal of neurosurgery. Case lessons 2023; (6(21)).

Development and evaluation of RhizoQOL, a quality-of-life caregiver-reported survey for rhizomelic chondrodysplasia punctata, a rare peroxisomal disorder.

Bose M, Anglade TC, Donlon CI, et al.

Orphanet journal of rare diseases 2025; (20(1)):147 doi:10.1186/s13023-025-03660-0.

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata.

Sankhe R, Williams MI, Fallatah W, et al.

Biomolecules 2025; (16(1)) doi:10.3390/biom16010006.