Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11. 3 deletion

PN Kantaputra, C Limwongse… - American Journal of …, 2006 - Wiley Online Library
… a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene
the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (…

[HTML][HTML] Monosomy 18p

C Turleau - Orphanet Journal of Rare Diseases, 2008 - ojrd.biomedcentral.com
… and the midface, and is associated with a large phenotypic … Hypotrichosis simplex, total
baldness or alopecia areata … of a 18p deletion, following detection of a holoprosencephaly-type …

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

A Richieri-Costa, LA Ribeiro - Brain and Development, 2008 - Elsevier
… Here, we report a Brazilian boy with lobar holoprosencephaly who … Contiguous gene
syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion

Osteogenesis imperfecta and holoprosencephaly

H Wainwright, P Beighton - Clinical Dysmorphology, 2007 - journals.lww.com
… To the best of our knowledge, this association has not been previously recognized. The … a
contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex due to a deletion

[PDF][PDF] Orphanet Journal of Rare

C Turleau - Orphanet Journal of Rare Diseases, 2008 - ojrd.biomedcentral.com
holoprosencephaly spectrum disorders. In two-thirds of the cases, the 18p- syndrome is
due to a mere terminal deletion … brain and the midface, and is associated with a large phenotypic …

Deletion 18p11. 32p11. 31 in a child with global developmental delay and atypical, drug-resistant absence seizures

A Verrotti, C Palka, G Prezioso, M Alfonsi… - … and Genome Research, 2015 - karger.com
… of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant …
holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these …

[HTML][HTML] Solitary median maxillary central incisor syndrome: an exploration of the pathogenic mechanism

J Li, D Liu, Y Liu, C Zhang, S Zheng - Frontiers in Genetics, 2022 - frontiersin.org
… The de novo 18p deletion resulted in SMMCI in the … deletion at chromosome 18p11.32-11.21
(chr18:10,001-15,199,661) x1 (h19). (B) A view of deleted disease-associated genes in the …

Taurodontism and Van der Woude syndrome: is there an association?

H Nawa, S Oberoi, K Vargervik - The Angle Orthodontist, 2008 - meridian.allenpress.com
… Other syndromes have also been reported to present with taurodontism: 18p11.3 deletion,20
Smith-Magenis syndrome,21 Tricho-dento-osseous syndrome,22–25 Klinefelter's syndrome

Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation

B Koshy, K Mandal, VM Srivastava, PT Loius… - Clinical …, 2011 - journals.lww.com
… not associated with … syndromes with mild mental retardation and short stature, as fertility
and life expectancy seem to be within normal limits in the absence of severe holoprosencephaly

Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism

PA Gongal, AJ Waskiewicz - Human molecular genetics, 2008 - academic.oup.com
… DEAB combined with tgif MO causes the deletion of presumptive hindbrain tissue between …
this association between TGIF and forebrain patterning, we analyzed the expression of genes