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Congenital heart disease associated with sporadic Kallmann syndrome.
Cortez AB, Galindo A, Arensman FW, Van Dop C. Cortez AB, et al. Am J Med Genet. 1993 Jun 15;46(5):551-4. doi: 10.1002/ajmg.1320460518. Am J Med Genet. 1993. PMID: 8322819 Review.
The cause of this association is unclear, but may involve either autosomal recessive inheritance, sporadic dominant mutation, or a shared teratogenic event during the first trimester of gestation....
The cause of this association is unclear, but may involve either autosomal recessive inheritance, sporadic dominant mutation, …
Genetic influences in autism.
Smalley SL. Smalley SL. Psychiatr Clin North Am. 1991 Mar;14(1):125-39. Psychiatr Clin North Am. 1991. PMID: 2047327 Review.
Genetic heterogeneity is indicated in autism, with an X-linked disorder, fragile X, and an autosomal dominant disorder, tuberous sclerosis, together accounting for perhaps 8% to 11% or more of cases of autism. ...An average sibling risk (frequency of affected siblin …
Genetic heterogeneity is indicated in autism, with an X-linked disorder, fragile X, and an autosomal dominant disorder, tubero …
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R, Berg J, Craft E, Foster A, Gibbons RJ, Hobson E, Lachlan K, Naik S, Sampson JR, Sharif S, Smithson S; Deciphering Developmental Disorders Study; Parker MJ, Tatton-Brown K. Cleaver R, et al. Am J Med Genet A. 2019 Mar;179(3):344-349. doi: 10.1002/ajmg.a.61024. Epub 2019 Jan 13. Am J Med Genet A. 2019. PMID: 30637921 Review.
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. ...This genotype-up approach has allowed further refinement of the Primrose syndrome phenotype. Major characteristics (>90% individuals) include an …
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. ...This genot …
Laband syndrome. Report of two cases, review of the literature, and identification of additional manifestations.
Chadwick B, Hunter B, Hunter L, Aldred M, Wilkie A. Chadwick B, et al. Oral Surg Oral Med Oral Pathol. 1994 Jul;78(1):57-63. doi: 10.1016/0030-4220(94)90118-x. Oral Surg Oral Med Oral Pathol. 1994. PMID: 8078665 Review.
We report two further unrelated cases and suggest that a skeletal anterior open bite and symmetric soft tissue swelling of the vault of the palate be added to the variable features associated with the syndrome. There is clear evidence in the literature of autosomal domi
We report two further unrelated cases and suggest that a skeletal anterior open bite and symmetric soft tissue swelling of the vault of the …
Phenotypic correlations of ocular coloboma without known cause.
Leppig KA, Pagon RA. Leppig KA, et al. Clin Dysmorphol. 1993 Oct;2(4):322-31. Clin Dysmorphol. 1993. PMID: 8305963 Review.
Ocular coloboma can occur as an autosomal dominant condition or as part of a known syndrome or chromosomal abnormality. ...However, only 14% of the children who had no other malformations had mental retardation, whereas 57% of those with other malformations w …
Ocular coloboma can occur as an autosomal dominant condition or as part of a known syndrome or chromosomal abnormality. ...How …