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| Open AccessGenetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa
- Kimberly Christine Coetzer
- , Ekkehard Zöllner
- & Shahida Moosa
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Article |
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome
- Avivit Cahn
- , Hagar Mor-Shaked
- & Tamar Harel
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Brief Communication
| Open AccessAbdominal obesity is a more important causal risk factor for pancreatic cancer than overall obesity
- Jared G. Maina
- , Vincent Pascat
- & Inga Prokopenko
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Article |
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
- Anne Sophie Neyroud
- , Joëlle Rudinger-Thirion
- & Sylvie Jaillard
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Article |
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment
- Giulia Rodari
- , Roberta Villa
- & Claudia Giavoli
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Brief Communication |
A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?
- Aristeidis Giannakopoulos
- , Amalia Sertedaki
- & Dionisios Chrysis
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Article |
Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study
- Mette Hansen Viuff
- , Kirstine Stochholm
- & Claus Højbjerg Gravholt
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Article |
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants
- Aurélie Pham
- , Marie-Laure Sobrier
- & Irène Netchine
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Correspondence
| Open AccessReply to Lao Q and Merke DP
- Sabina Baumgartner-Parzer
- , Martina Witsch-Baumgartner
- & Wolfgang Hoeppner
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Policy
| Open AccessEMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Sabina Baumgartner-Parzer
- , Martina Witsch-Baumgartner
- & Wolfgang Hoeppner
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Article |
Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74
- Lotte Kleinendorst
- , Sanne I. M. Alsters
- & Mieke M. van Haelst
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Article |
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
- Aurélien Juven
- , Sophie Nambot
- & Laurence Faivre
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Brief Communication |
Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant
- Clara S. H. Tan
- , Su Fen Ang
- & Su Chi Lim
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Brief Communication |
Precision medicine for a man presented with diabetes at 2-month old
- Su Fen Ang
- , Clara Si Hua Tan
- & Su Chi Lim
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Article |
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
- Núria Camats
- , Mónica Fernández-Cancio
- & Christa E. Flück
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Article |
A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study
- Dan Zhou
- , Dandan Zhang
- & Maode Lai
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Short Report |
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
- Jamal Ghoumid
- , Florence Petit
- & Sylvie Manouvrier-Hanu
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Article |
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics
- Márton Doleschall
- , Andrea Luczay
- & Attila Patócs
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Clinical Utility Gene Card |
Clinical Utility Gene Card for: Familial partial lipodystrophy
- Isabelle Jéru
- , Camille Vatier
- & Olivier Lascols
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Short Report |
Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14
- Maria Elena Martinez
- , David F Cox
- & Arturo Hernandez
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Clinical Utility Gene Card |
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy
1. Name of the disease (synonyms):
There are four subclasses of Congenital Generalized Lipodystrophy (CGL), also named Berardinelli–Seip Congenital Lipodystrophy (BSCL):
Type 1 CGL (CGL1).
Type 2 CGL (CGL2).
Type 3 CGL (CGL3).
Type 4 CGL (CGL4).
2. OMIM# of the disease:
CGL1: #608594.
CGL2: #269700.
CGL3: #612526.
CGL4: #613327.
3. Name of the analysed genes or dna/chromosome segments:
CGL1: AGPAT2.
CGL2: BSCL2.
CGL3: CAV1.
CGL4: PTRF.
4. OMIM# of the gene(s):
AGPAT2: *603100.
BSCL2: *606158.
CAV1: *601047.
PTRF: *603198.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the four gene(s) in ⊠ diagnostic, □ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.
- Isabelle Jéru
- , Camille Vatier
- & Olivier Lascols
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Article |
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects
- Sosipatros A Boikos
- , Paraskevi Xekouki
- & Constantine A Stratakis