| P2093 | author name string | Lacombe D | |
| P2860 | cites work | Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired | Q22003954 |
| | A human MSX1 homeodomain missense mutation causes selective tooth agenesis | Q24310369 |
| | Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family | Q24311501 |
| | Mutations of the TWIST gene in the Saethre-Chotzen syndrome | Q24311736 |
| | Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome) | Q24311995 |
| | Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome | Q24314959 |
| | Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome | Q24317185 |
| | SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) | Q24317232 |
| | PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis | Q24317343 |
| | Mutation of HOXA13 in hand-foot-genital syndrome | Q24318467 |
| | Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome | Q24319625 |
| | Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 | Q24323194 |
| | Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse | Q24323305 |
| | X-linked situs abnormalities result from mutations in ZIC3 | Q24323307 |
| | Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 | Q24336093 |
| | Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene | Q28181722 |
| | The human PAX6 gene is mutated in two patients with aniridia | Q28207886 |
| | Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene | Q28242642 |
| | A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis | Q28249477 |
| | Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly | Q28252261 |
| | SOX10 mutations in patients with Waardenburg-Hirschsprung disease | Q28261561 |
| | Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein | Q28264443 |
| | Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP | Q28295041 |
| | Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome | Q28298470 |
| | Transcription factors: structural families and principles of DNA recognition | Q29615317 |
| | Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. | Q34314263 |
| | Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma | Q34334974 |
| | Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. | Q34367867 |
| | Pax genes and organogenesis. | Q34439185 |
| | The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation | Q39423802 |
| | Transcription factors in disease | Q41099948 |
| | Lumping and splitting: molecular biology in the genetics clinic | Q41742209 |
| | Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. | Q45345530 |
| | Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome | Q47793775 |
| | Conjunction dysfunction: CBP/p300 in human disease. | Q48013074 |
| | Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. | Q50522919 |
| | Point mutations in human GLI3 cause Greig syndrome. | Q52192748 |
| | Strike three for GLI3. | Q52559783 |
| | Of fingers, toes and penises. | Q55067258 |
| | GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome | Q55670535 |
| | A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without a-Thalassemia | Q56567434 |
| | Hox proteins meet more partners | Q77210635 |
| P433 | issue | 3 | |
| P304 | page(s) | 137-143 | |
| P577 | publication date | 1999-03-01 | |
| P1433 | published in | Clinical Genetics | Q5133760 |
| P1476 | title | Transcription factors in dysmorphology | |
| P478 | volume | 55 | |