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

Kantaputra, Piranit N

Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. [electronic resource] - American journal of medical genetics. Part A Dec 2006 - 2598-602 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4825

10.1002/ajmg.a.31386 doi


Abnormalities, Multiple--genetics
Adult
Chromosome Deletion
Chromosomes, Human, Pair 18
Holoprosencephaly--diagnosis
Homeodomain Proteins--genetics
Humans
Hypotrichosis--diagnosis
Intellectual Disability--genetics
Karyotyping
Male
Microcephaly--genetics
Phenotype
Repressor Proteins--genetics
Syndrome